2024-04-26 23:20:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000070 3316 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA. ACCESSION NM_000070 VERSION NM_000070.2 GI:27765081 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3316) AUTHORS Fanin,M., Benedicenti,F., Fritegotto,C., Nascimbeni,A.C., Peterle,E., Stanzial,F., Cristofoletti,A., Castellan,C. and Angelini,C. TITLE An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps JOURNAL Clin. Genet. 82 (6), 601-602 (2012) PUBMED 22486197 REMARK GeneRIF: An intronic mutation in CAPN3 causes severe Limb girdle muscular dystrophy 2A in a large inbred family belonging to a genetic isolate in the Italian Alps. REFERENCE 2 (bases 1 to 3316) AUTHORS Luo,S.S., Xi,J.Y., Zhu,W.H., Zhao,C.B., Lu,J.H., Lin,J., Wang,Y., Lu,J. and Qiao,K. TITLE Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A JOURNAL Muscle Nerve 46 (5), 723-729 (2012) PUBMED 22926650 REMARK GeneRIF: All 18 mutations of Chinese LGMD2A patients are distributed along the entire CAPN3 gene; 11 of the mutations are novel, including 4 missense mutations, 5 deletions, and 2 splicing mutations. REFERENCE 3 (bases 1 to 3316) AUTHORS Paco,S., Ferrer,I., Jou,C., Cusi,V., Corbera,J., Torner,F., Gualandi,F., Sabatelli,P., Orozco,A., Gomez-Foix,A.M., Colomer,J., Nascimento,A. and Jimenez-Mallebrera,C. TITLE Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-kappaB signaling JOURNAL J. Neuropathol. Exp. Neurol. 71 (10), 894-906 (2012) PUBMED 22975586 REMARK GeneRIF: Alterations in CAPN3 and nuclear factor-kappaB signaling contribute to muscle mass loss in congenital muscular dystrophy. REFERENCE 4 (bases 1 to 3316) AUTHORS Kramerova,I., Kudryashova,E., Ermolova,N., Saenz,A., Jaka,O., Lopez de Munain,A. and Spencer,M.J. TITLE Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3 JOURNAL Hum. Mol. Genet. 21 (14), 3193-3204 (2012) PUBMED 22505582 REMARK GeneRIF: The decrease in CaMKII signaling in the absence of CAPN3 is associated with a reduction of muscle adaptation response. REFERENCE 5 (bases 1 to 3316) AUTHORS Hauerslev,S., Sveen,M.L., Duno,M., Angelini,C., Vissing,J. and Krag,T.O. TITLE Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies JOURNAL BMC Musculoskelet Disord 13, 43 (2012) PUBMED 22443334 REMARK GeneRIF: Evidence from patients with limb girdle muscular dystrophies suggests that calpain 3 is needed for the regenerative process. Publication Status: Online-Only REFERENCE 6 (bases 1 to 3316) AUTHORS Fardeau,M., Hillaire,D., Mignard,C., Feingold,N., Feingold,J., Mignard,D., de Ubeda,B., Collin,H., Tome,F.M., Richard,I. and Beckmann,J. TITLE Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island JOURNAL Brain 119 (PT 1), 295-308 (1996) PUBMED 8624690 REFERENCE 7 (bases 1 to 3316) AUTHORS Sorimachi,H., Kinbara,K., Kimura,S., Takahashi,M., Ishiura,S., Sasagawa,N., Sorimachi,N., Shimada,H., Tagawa,K., Maruyama,K. et al. TITLE Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence JOURNAL J. Biol. Chem. 270 (52), 31158-31162 (1995) PUBMED 8537379 REFERENCE 8 (bases 1 to 3316) AUTHORS Richard,I., Broux,O., Allamand,V., Fougerousse,F., Chiannilkulchai,N., Bourg,N., Brenguier,L., Devaud,C., Pasturaud,P., Roudaut,C. et al. TITLE Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A JOURNAL Cell 81 (1), 27-40 (1995) PUBMED 7720071 REFERENCE 9 (bases 1 to 3316) AUTHORS Ohno,S., Minoshima,S., Kudoh,J., Fukuyama,R., Shimizu,Y., Ohmi-Imajoh,S., Shimizu,N. and Suzuki,K. TITLE Four genes for the calpain family locate on four distinct human chromosomes JOURNAL Cytogenet. Cell Genet. 53 (4), 225-229 (1990) PUBMED 2209092 REFERENCE 10 (bases 1 to 3316) AUTHORS Sorimachi,H., Imajoh-Ohmi,S., Emori,Y., Kawasaki,H., Ohno,S., Minami,Y. and Suzuki,K. TITLE Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle JOURNAL J. Biol. Chem. 264 (33), 20106-20111 (1989) PUBMED 2555341 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AF209502.1 and BC003169.1. This sequence is a reference standard in the RefSeqGene project. On Jan 16, 2003 this sequence version replaced gi:4557404. Summary: Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (1) encodes the longest isoform (a). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC146649.1, X85030.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084, ERS025088 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. FEATURES Location/Qualifiers source 1..3316 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="15" /map="15q15.1" gene 1..3316 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="calpain 3, (p94)" /db_xref="GeneID:825" /db_xref="HGNC:1480" /db_xref="HPRD:00255" /db_xref="MIM:114240" exon 1..615 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 104 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:139492390" variation 176 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="g" /replace="t" /db_xref="dbSNP:113881834" variation 203 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:149698681" STS 238..494 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="SKM-CALPOV" /db_xref="UniSTS:251621" misc_feature 256..258 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="upstream in-frame stop codon" variation 259 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:111725604" variation 306 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:146850333" CDS 307..2772 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /EC_number="3.4.22.54" /note="isoform a is encoded by transcript variant 1; calpain, large polypeptide L3; calpain p94, large [catalytic] subunit; muscle-specific calcium-activated neutral protease 3 large subunit; calpain-3; calpain L3; new calpain 1; calcium-activated neutral proteinase 3" /codon_start=1 /product="calpain-3 isoform a" /protein_id="NP_000061.1" /db_xref="GI:4557405" /db_xref="CCDS:CCDS45245.1" /db_xref="GeneID:825" /db_xref="HGNC:1480" /db_xref="HPRD:00255" /db_xref="MIM:114240" /translation="
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEFPPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYAGIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFEIRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVKKKKTKPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA
" misc_feature 346..348 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:00255" misc_feature 436..438 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:00255" misc_feature 493..1551 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="Calpains, domains IIa, IIb; calcium-dependent cytoplasmic cysteine proteinases, papain-like. Functions in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction; Region: CysPc; cd00044" /db_xref="CDD:28925" misc_feature order(691..693,1306..1308,1378..1380) /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="catalytic site [active]" /db_xref="CDD:28925" misc_feature 1126..1128 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:00255" misc_feature 1249..1251 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="proteolytic cleavage site; modified site" /db_xref="HPRD:00255" misc_feature 1558..2064 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P20807.2); Region: Domain III" misc_feature 1585..2058 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="Calpain, subdomain III. Calpains are calcium-activated cytoplasmic cysteine proteinases, participate in cytoskeletal remodeling processes, cell differentiation, apoptosis and signal transduction. Catalytic domain and the two calmodulin-like domains are...; Region: Calpain_III; cd00214" /db_xref="CDD:29269" misc_feature order(1699..1707,1738..1740) /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="acidic loop; other site" /db_xref="CDD:29269" misc_feature 2065..2253 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P20807.2); Region: Linker" misc_feature 2254..2769 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P20807.2); Region: Domain IV" misc_feature 2266..2469 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to...; Region: EFh; cd00051" /db_xref="CDD:28933" misc_feature order(2290..2292,2296..2298,2299..2301,2320..2322, 2419..2421,2425..2427,2431..2433,2452..2454) /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:28933" misc_feature 2296..2469 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="EF-hand domain pair; Region: EF_hand_6; pfam13833" /db_xref="CDD:206004" misc_feature 2395..2559 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to...; Region: EFh; cd00051" /db_xref="CDD:28933" misc_feature order(2419..2421,2425..2427,2431..2433,2452..2454, 2509..2511,2515..2517,2521..2523,2542..2544) /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:28933" misc_feature 2488..2655 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to...; Region: EFh; cd00051" /db_xref="CDD:28933" misc_feature order(2509..2511,2515..2517,2521..2523,2542..2544, 2614..2616,2620..2622,2626..2628,2647..2649) /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:28933" variation 311 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:373919252" variation 312 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /replace="t" /db_xref="dbSNP:117480333" variation 316 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:140660066" variation 324 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:144722502" variation 350 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:34028888" variation 368 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:28364364" variation 379 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:61735534" variation 384 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:62642519" variation 402 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:1801496" variation 403 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:199549257" variation 417 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:149536696" variation 437 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:370542189" variation 463 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:144138775" variation 489 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:146069933" variation 490 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:370422576" STS 524..599 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="GDB:595511" /db_xref="UniSTS:158022" variation 538 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:138867099" variation 552 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:146529432" variation 563 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:121434546" variation 594 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="g" /replace="t" /db_xref="dbSNP:374708755" variation 598 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:368585092" variation 600 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:147493037" variation 614 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:148538711" variation 615 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:376146681" exon 616..685 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 623 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:202008742" variation 624 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:117609395" variation 625 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:1801505" variation 634 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:121434545" variation 635 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:188108732" STS 647..754 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="GDB:595491" /db_xref="UniSTS:158019" variation 647 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:376421197" exon 686..804 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 746 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:139671324" variation 774 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:143942248" variation 775..776 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="" /replace="a" /db_xref="dbSNP:35855730" variation 775 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:200944841" variation 785 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:17592" variation 801 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:1801324" exon 805..938 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 831 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:144383442" variation 856 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="" /replace="a" /db_xref="dbSNP:80338800" variation 857 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:35889956" variation 858 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:147808529" STS 860..1024 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="PMC104364P1" /db_xref="UniSTS:270108" STS 877..1416 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="Capn3" /db_xref="UniSTS:507941" variation 890 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:148855999" variation 895 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:199718635" variation 899 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:371166254" variation 912 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:17593" exon 939..1107 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 946 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:369784333" variation 954 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:138846390" variation 1012 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:1801449" variation 1027 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:141948992" variation 1031 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:146253209" STS 1061..1168 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="MARC_26098-26099:1032551724:1" /db_xref="UniSTS:268938" exon 1108..1251 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 1120 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="t" /db_xref="dbSNP:373936933" variation 1127 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:138914944" variation 1136 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:147337720" variation 1203 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:370313391" variation 1218 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:374702796" variation 1236 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:150356488" variation 1245 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:78369269" variation 1250 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:201155077" exon 1252..1335 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 1256 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:371362494" variation 1262 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:121434547" variation 1270 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:149591108" variation 1277 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:144281919" variation 1290 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:28364441" variation 1304 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:200580015" variation 1308 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:374833797" variation 1311 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:369062480" variation 1323 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:141934227" variation 1326 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="g" /replace="t" /db_xref="dbSNP:372401631" exon 1336..1421 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 1351 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:146403258" variation 1378 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:79036902" variation 1386 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:267606703" exon 1422..1499 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" STS 1443..2262 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="Capn3" /db_xref="UniSTS:507942" variation 1463 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:376273996" variation 1494 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:370355559" exon 1500..1660 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 1504 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="t" /db_xref="dbSNP:367863862" variation 1508 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:371784007" variation 1533 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:111806046" variation 1556 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:200646556" variation 1557 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:151090625" variation 1563 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="g" /replace="t" /db_xref="dbSNP:139836397" variation 1569 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:372450879" variation 1595 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:199725329" variation 1598 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:199625801" variation 1609 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:149914792" variation 1614 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:372968945" variation 1625 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:376107921" variation 1656 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:144944366" exon 1661..1830 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 1684 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="t" /db_xref="dbSNP:141987399" variation 1716 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:371148431" variation 1728 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:367855757" variation 1741 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:201736037" variation 1743 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:147914333" variation 1756 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:144220513" variation 1767 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="g" /replace="t" /db_xref="dbSNP:182954359" variation 1772 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:147764579" variation 1774 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:141656719" variation 1775 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:121434548" variation 1784 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:143583537" variation 1811 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:148044781" variation 1822 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:140828326" variation 1827 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:370231427" exon 1831..1842 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" exon 1843..2051 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 1848 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:377215244" variation 1849 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:150226817" variation 1863 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:368385372" variation 1872 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:201116482" variation 1885 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:374826325" variation 1891 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:138857720" variation 1927 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:142004418" variation 1942 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:372438001" variation 1948 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:375279877" variation 1949 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:146309264" variation 1969 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:138172448" variation 1974 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:199884116" variation 1984 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:146845466" variation 1993 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:140684769" variation 2010 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:143066571" variation 2021 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:121434544" exon 2052..2088 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2073 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:376429947" variation 2074 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:370809015" variation 2080 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:373512834" exon 2089..2106 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2097 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:112606316" variation 2101..2102 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="" /replace="a" /db_xref="dbSNP:80338803" exon 2107..2220 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2108 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:199739866" variation 2113 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:201649025" variation 2118 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:144383704" variation 2119 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:200759807" variation 2123 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:199806879" variation 2124 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:28364528" variation 2133 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:370274149" variation 2136 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:202019404" variation 2147 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="t" /db_xref="dbSNP:111525622" variation 2148 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:201607149" variation 2171 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:11557723" STS 2199..2262 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="GDB:595502" /db_xref="UniSTS:158020" exon 2221..2298 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2234 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:142391359" variation 2235 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:11557722" variation 2253 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:79440238" variation 2290 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:187054121" exon 2299..2356 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2327 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:373946278" variation 2346 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:200583904" variation 2356 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:201566716" exon 2357..2421 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2377 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:140425651" variation 2399 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:190793093" variation 2412 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:144260889" variation 2415 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:371577901" exon 2422..2490 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2426 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:200379491" variation 2474 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:113653022" exon 2491..2569 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2508 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="t" /db_xref="dbSNP:367898987" variation 2523 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:148851444" variation 2541 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:147774793" variation 2551 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:201012232" variation 2555 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:371367772" variation 2562 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:11557721" variation 2563 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:146923842" variation 2566 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:137927542" exon 2570..2686 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2575 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:148246325" variation 2588 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:373995517" variation 2598 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:187279903" variation 2612 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:80338802" variation 2635 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:149969786" variation 2638 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:115311625" STS 2648..2777 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="GDB:595506" /db_xref="UniSTS:158021" variation 2668..2669 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="" /replace="ag" /db_xref="dbSNP:80338804" exon 2687..2745 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2699 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:149095128" STS 2704..2771 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="Capn3" /db_xref="UniSTS:141225" variation 2715 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:143139259" variation 2735 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:200485658" variation 2737 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:200516941" variation 2739 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:28364543" exon 2746..3316 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /inference="alignment:Splign:1.39.8" variation 2746 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:140611662" variation 2763 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:145669864" variation 2803 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="g" /replace="t" /db_xref="dbSNP:372456947" variation 2906 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:3098423" variation 2907..2908 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="" /replace="g" /db_xref="dbSNP:35445783" variation 2938 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:376799702" variation 2941 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:62022299" variation 2960 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="c" /db_xref="dbSNP:371114395" variation 2983 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="a" /replace="g" /db_xref="dbSNP:112661890" variation 3037 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:74009086" variation 3043 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /db_xref="dbSNP:74009087" variation 3047 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:111952947" STS 3049..3236 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="RH17562" /db_xref="UniSTS:8846" STS 3125..3204 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="D15S882E" /db_xref="UniSTS:153796" STS 3126..3275 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /standard_name="SHGC-35143" /db_xref="UniSTS:682" variation 3153 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /replace="c" /replace="t" /db_xref="dbSNP:144501482" polyA_signal 3292..3297 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" polyA_site 3316 /gene="CAPN3" /gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94" /experiment="experimental evidence, no additional details recorded" ORIGIN
cactctctttctctctccctctggcatgcatgctgctggtaggagacccccaagtcaacattgcttcagaaatcctttagcactcatttctcaggagaacttatggcttcagaatcacagctcggtttttaagatggacataacctgtacgaccttctgatgggctttcaactttgaactggatgtggacacttttctctcagatgacagaattactccaacttcccctttgcagttgcttcctttccttgaaggtagctgtatcttattttctttaaaaagctttttcttccaaagccacttgccatgccgaccgtcattagcgcatctgtggctccaaggacagcggctgagccccggtccccagggccagttcctcacccggcccagagcaaggccactgaggctgggggtggaaacccaagtggcatctattcagccatcatcagccgcaattttcctattatcggagtgaaagagaagacattcgagcaacttcacaagaaatgtctagaaaagaaagttctttatgtggaccctgagttcccaccggatgagacctctctcttttatagccagaagttccccatccagttcgtctggaagagacctccggaaatttgcgagaatccccgatttatcattgatggagccaacagaactgacatctgtcaaggagagctaggggactgctggtttctcgcagccattgcctgcctgaccctgaaccagcaccttcttttccgagtcataccccatgatcaaagtttcatcgaaaactacgcagggatcttccacttccagttctggcgctatggagagtgggtggacgtggttatagatgactgcctgccaacgtacaacaatcaactggttttcaccaagtccaaccaccgcaatgagttctggagtgctctgctggagaaggcttatgctaagctccatggttcctacgaagctctgaaaggtgggaacaccacagaggccatggaggacttcacaggaggggtggcagagttttttgagatcagggatgctcctagtgacatgtacaagatcatgaagaaagccatcgagagaggctccctcatgggctgctccattgatgatggcacgaacatgacctatggaacctctccttctggtctgaacatgggggagttgattgcacggatggtaaggaatatggataactcactgctccaggactcagacctcgaccccagaggctcagatgaaagaccgacccggacaatcattccggttcagtatgagacaagaatggcctgcgggctggtcagaggtcacgcctactctgtcacggggctggatgaggtcccgttcaaaggtgagaaagtgaagctggtgcggctgcggaatccgtggggccaggtggagtggaacggttcttggagtgatagatggaaggactggagctttgtggacaaagatgagaaggcccgtctgcagcaccaggtcactgaggatggagagttctggatgtcctatgaggatttcatctaccatttcacaaagttggagatctgcaacctcacggccgatgctctgcagtctgacaagcttcagacctggacagtgtctgtgaacgagggccgctgggtacggggttgctctgccggaggctgccgcaacttcccagatactttctggaccaaccctcagtaccgtctgaagctcctggaggaggacgatgaccctgatgactcggaggtgatttgcagcttcctggtggccctgatgcagaagaaccggcggaaggaccggaagctaggggccagtctcttcaccattggcttcgccatctacgaggttcccaaagagatgcacgggaacaagcagcacctgcagaaggacttcttcctgtacaacgcctccaaggccaggagcaaaacctacatcaacatgcgggaggtgtcccagcgcttccgcctgcctcccagcgagtacgtcatcgtgccctccacctacgagccccaccaggagggggaattcatcctccgggtcttctctgaaaagaggaacctctctgaggaagttgaaaataccatctccgtggatcggccagtgaaaaagaaaaaaaccaagcccatcatcttcgtttcggacagagcaaacagcaacaaggagctgggtgtggaccaggagtcagaggagggcaaaggcaaaacaagccctgataagcaaaagcagtccccacagccacagcctggcagctctgatcaggaaagtgaggaacagcaacaattccggaacattttcaagcagatagcaggagatgacatggagatctgtgcagatgagctcaagaaggtccttaacacagtcgtgaacaaacacaaggacctgaagacacacgggttcacactggagtcctgccgtagcatgattgcgctcatggatacagatggctctggaaagctcaacctgcaggagttccaccacctctggaacaagattaaggcctggcagaaaattttcaaacactatgacacagaccagtccggcaccatcaacagctacgagatgcgaaatgcagtcaacgacgcaggattccacctcaacaaccagctctatgacatcattaccatgcggtacgcagacaaacacatgaacatcgactttgacagtttcatctgctgcttcgttaggctggagggcatgttcagagcttttcatgcatttgacaaggatggagatggtatcatcaagctcaacgttctggagtggctgcagctcaccatgtatgcctgaaccaggctggcctcatccaaagccatgcaggatcactcaggatttcagtttcaccctctatttccaaagccatttacctcaaaggacccagcagctacacccctacaggcttccaggcacctcatcagtcatgctcctcctccattttaccccctacccatccttgatcggtcatgcctagcctgaccctttagtaaagcaatgaggtaggaagaacaaacccttgtccctttgccatgtggaggaaagtgcctgcctctggtccgagccgcctcggttctgaagcgagtgctcctgcttaccttgctctaggctgtctgcagaagcacctgccggtggcactcagcacctccttgtgctagagccctccatcaccttcacgctgtcccaccatgggccaggaaccaaaccagcactgggttctactgctgtggggtaaactaactcagtggaatagggctggttactttgggctgtccaactcataagtttggctgcattttgaaaaaagctgatctaaataaaggcatgtgtatggctggtc
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:825 -> Molecular function: GO:0003824 [catalytic activity] evidence: IDA GeneID:825 -> Molecular function: GO:0004198 [calcium-dependent cysteine-type endopeptidase activity] evidence: ISS GeneID:825 -> Molecular function: GO:0004198 [calcium-dependent cysteine-type endopeptidase activity] evidence: TAS GeneID:825 -> Molecular function: GO:0004871 [signal transducer activity] evidence: TAS GeneID:825 -> Molecular function: GO:0005509 [calcium ion binding] evidence: ISS GeneID:825 -> Molecular function: GO:0005515 [protein binding] evidence: IPI GeneID:825 -> Molecular function: GO:0008233 [peptidase activity] evidence: IDA GeneID:825 -> Molecular function: GO:0008234 [cysteine-type peptidase activity] evidence: TAS GeneID:825 -> Molecular function: GO:0008307 [structural constituent of muscle] evidence: ISS GeneID:825 -> Molecular function: GO:0031402 [sodium ion binding] evidence: ISS GeneID:825 -> Molecular function: GO:0031432 [titin binding] evidence: IPI GeneID:825 -> Molecular function: GO:0032947 [protein complex scaffold] evidence: ISS GeneID:825 -> Molecular function: GO:0055103 [ligase regulator activity] evidence: IDA GeneID:825 -> Biological process: GO:0001896 [autolysis] evidence: IEA GeneID:825 -> Biological process: GO:0006461 [protein complex assembly] evidence: ISS GeneID:825 -> Biological process: GO:0006508 [proteolysis] evidence: IDA GeneID:825 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS GeneID:825 -> Biological process: GO:0007165 [signal transduction] evidence: TAS GeneID:825 -> Biological process: GO:0007517 [muscle organ development] evidence: TAS GeneID:825 -> Biological process: GO:0014718 [positive regulation of satellite cell activation involved in skeletal muscle regeneration] evidence: ISS GeneID:825 -> Biological process: GO:0014850 [response to muscle activity] evidence: ISS GeneID:825 -> Biological process: GO:0030239 [myofibril assembly] evidence: ISS GeneID:825 -> Biological process: GO:0030239 [myofibril assembly] evidence: TAS GeneID:825 -> Biological process: GO:0033234 [negative regulation of protein sumoylation] evidence: IDA GeneID:825 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP GeneID:825 -> Biological process: GO:0043122 [regulation of I-kappaB kinase/NF-kappaB cascade] evidence: IMP GeneID:825 -> Biological process: GO:0045214 [sarcomere organization] evidence: ISS GeneID:825 -> Biological process: GO:0045661 [regulation of myoblast differentiation] evidence: IEA GeneID:825 -> Biological process: GO:0045862 [positive regulation of proteolysis] evidence: ISS GeneID:825 -> Biological process: GO:0045892 [negative regulation of transcription, DNA-dependent] evidence: ISS GeneID:825 -> Biological process: GO:0045893 [positive regulation of transcription, DNA-dependent] evidence: IMP GeneID:825 -> Biological process: GO:0046716 [muscle cell homeostasis] evidence: TAS GeneID:825 -> Biological process: GO:0050790 [regulation of catalytic activity] evidence: IDA GeneID:825 -> Biological process: GO:0051092 [positive regulation of NF-kappaB transcription factor activity] evidence: IMP GeneID:825 -> Biological process: GO:0051281 [positive regulation of release of sequestered calcium ion into cytosol] evidence: ISS GeneID:825 -> Biological process: GO:0051592 [response to calcium ion] evidence: ISS GeneID:825 -> Biological process: GO:0061061 [muscle structure development] evidence: ISS GeneID:825 -> Biological process: GO:0070315 [G1 to G0 transition involved in cell differentiation] evidence: IEA GeneID:825 -> Biological process: GO:0071277 [cellular response to calcium ion] evidence: ISS GeneID:825 -> Biological process: GO:0071472 [cellular response to salt stress] evidence: ISS GeneID:825 -> Biological process: GO:0072657 [protein localization to membrane] evidence: ISS GeneID:825 -> Biological process: GO:0097264 [self proteolysis] evidence: IDA GeneID:825 -> Cellular component: GO:0005622 [intracellular] evidence: TAS GeneID:825 -> Cellular component: GO:0005634 [nucleus] evidence: IDA GeneID:825 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA GeneID:825 -> Cellular component: GO:0005829 [cytosol] evidence: ISS GeneID:825 -> Cellular component: GO:0005886 [plasma membrane] evidence: ISS GeneID:825 -> Cellular component: GO:0030016 [myofibril] evidence: ISS GeneID:825 -> Cellular component: GO:0030018 [Z disc] evidence: ISS GeneID:825 -> Cellular component: GO:0030315 [T-tubule] evidence: ISS GeneID:825 -> Cellular component: GO:0043234 [protein complex] evidence: ISS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_000061 -> EC 3.4.22.54
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@meso_cacase at
DBCLS
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