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2024-04-20 13:00:54, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024344 3298 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 2, mRNA.
ACCESSION NM_024344
VERSION NM_024344.1 GI:27765071
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 3298)
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 3298)
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 3298)
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 3298)
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 3298)
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 3298)
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 3298)
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 3298)
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 3298)
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 3298)
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 AF127764.1 and AF209502.1.
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 (2) lacks an in-frame exon in the
coding region, compared to variant 1. It encodes isoform b, which
is slightly shorter than 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 :: AF127764.1 [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..3298
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q15.1"
gene 1..3298
/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..2754
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/EC_number="3.4.22.54"
/note="isoform b is encoded by transcript variant 2;
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 b"
/protein_id="NP_077320.1"
/db_xref="GI:27765072"
/db_xref="CCDS:CCDS32207.1"
/db_xref="GeneID:825"
/db_xref="HGNC:1480"
/db_xref="HPRD:00255"
/db_xref="MIM:114240"
/translation="
MPTVISASVAPRTAAEPRSPGPVPHPAQSKATEAGGGNPSGIYSAIISRNFPIIGVKEKTFEQLHKKCLEKKVLYVDPEFPPDETSLFYSQKFPIQFVWKRPPEICENPRFIIDGANRTDICQGELGDCWFLAAIACLTLNQHLLFRVIPHDQSFIENYAGIFHFQFWRYGEWVDVVIDDCLPTYNNQLVFTKSNHRNEFWSALLEKAYAKLHGSYEALKGGNTTEAMEDFTGGVAEFFEIRDAPSDMYKIMKKAIERGSLMGCSIDDGTNMTYGTSPSGLNMGELIARMVRNMDNSLLQDSDLDPRGSDERPTRTIIPVQYETRMACGLVRGHAYSVTGLDEVPFKGEKVKLVRLRNPWGQVEWNGSWSDRWKDWSFVDKDEKARLQHQVTEDGEFWMSYEDFIYHFTKLEICNLTADALQSDKLQTWTVSVNEGRWVRGCSAGGCRNFPDTFWTNPQYRLKLLEEDDDPDDSEVICSFLVALMQKNRRKDRKLGASLFTIGFAIYEVPKEMHGNKQHLQKDFFLYNASKARSKTYINMREVSQRFRLPPSEYVIVPSTYEPHQEGEFILRVFSEKRNLSEEVENTISVDRPVPIIFVSDRANSNKELGVDQESEEGKGKTSPDKQKQSPQPQPGSSDQESEEQQQFRNIFKQIAGDDMEICADELKKVLNTVVNKHKDLKTHGFTLESCRSMIALMDTDGSGKLNLQEFHHLWNKIKAWQKIFKHYDTDQSGTINSYEMRNAVNDAGFHLNNQLYDIITMRYADKHMNIDFDSFICCFVRLEGMFRAFHAFDKDGDGIIKLNVLEWLQLTMYA
"
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 2236..2751
/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 2248..2451
/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(2272..2274,2278..2280,2281..2283,2302..2304,
2401..2403,2407..2409,2413..2415,2434..2436)
/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 2278..2451
/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 2377..2541
/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(2401..2403,2407..2409,2413..2415,2434..2436,
2491..2493,2497..2499,2503..2505,2524..2526)
/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 2470..2637
/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(2491..2493,2497..2499,2503..2505,2524..2526,
2596..2598,2602..2604,2608..2610,2629..2631)
/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..2244
/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..2202
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2090
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:199739866"
variation 2095
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:201649025"
variation 2100
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:144383704"
variation 2101
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:200759807"
variation 2105
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:199806879"
variation 2106
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:28364528"
variation 2115
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:370274149"
variation 2118
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:202019404"
variation 2129
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="t"
/db_xref="dbSNP:111525622"
variation 2130
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="g"
/db_xref="dbSNP:201607149"
variation 2153
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:11557723"
STS 2181..2244
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/standard_name="GDB:595502"
/db_xref="UniSTS:158020"
exon 2203..2280
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2216
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:142391359"
variation 2217
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:11557722"
variation 2235
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:79440238"
variation 2272
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:187054121"
exon 2281..2338
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2309
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:373946278"
variation 2328
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:200583904"
variation 2338
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:201566716"
exon 2339..2403
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2359
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:140425651"
variation 2381
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:190793093"
variation 2394
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:144260889"
variation 2397
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:371577901"
exon 2404..2472
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2408
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:200379491"
variation 2456
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:113653022"
exon 2473..2551
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2490
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="t"
/db_xref="dbSNP:367898987"
variation 2505
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:148851444"
variation 2523
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:147774793"
variation 2533
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:201012232"
variation 2537
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:371367772"
variation 2544
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:11557721"
variation 2545
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:146923842"
variation 2548
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:137927542"
exon 2552..2668
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2557
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:148246325"
variation 2570
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:373995517"
variation 2580
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:187279903"
variation 2594
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:80338802"
variation 2617
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:149969786"
variation 2620
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:115311625"
STS 2630..2759
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/standard_name="GDB:595506"
/db_xref="UniSTS:158021"
variation 2650..2651
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace=""
/replace="ag"
/db_xref="dbSNP:80338804"
exon 2669..2727
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2681
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:149095128"
STS 2686..2753
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/standard_name="Capn3"
/db_xref="UniSTS:141225"
variation 2697
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:143139259"
variation 2717
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:200485658"
variation 2719
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:200516941"
variation 2721
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:28364543"
exon 2728..3298
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/inference="alignment:Splign:1.39.8"
variation 2728
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:140611662"
variation 2745
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:145669864"
variation 2785
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="g"
/replace="t"
/db_xref="dbSNP:372456947"
variation 2888
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:3098423"
variation 2889..2890
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace=""
/replace="g"
/db_xref="dbSNP:35445783"
variation 2920
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:376799702"
variation 2923
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:62022299"
variation 2942
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="c"
/db_xref="dbSNP:371114395"
variation 2965
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="a"
/replace="g"
/db_xref="dbSNP:112661890"
variation 3019
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:74009086"
variation 3025
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="g"
/db_xref="dbSNP:74009087"
variation 3029
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:111952947"
STS 3031..3218
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/standard_name="RH17562"
/db_xref="UniSTS:8846"
STS 3107..3186
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/standard_name="D15S882E"
/db_xref="UniSTS:153796"
STS 3108..3257
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/standard_name="SHGC-35143"
/db_xref="UniSTS:682"
variation 3135
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/replace="c"
/replace="t"
/db_xref="dbSNP:144501482"
polyA_signal 3274..3279
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
polyA_site 3298
/gene="CAPN3"
/gene_synonym="CANP3; CANPL3; LGMD2; LGMD2A; nCL-1; p94"
/experiment="experimental evidence, no additional details
recorded"
ORIGIN
cactctctttctctctccctctggcatgcatgctgctggtaggagacccccaagtcaacattgcttcagaaatcctttagcactcatttctcaggagaacttatggcttcagaatcacagctcggtttttaagatggacataacctgtacgaccttctgatgggctttcaactttgaactggatgtggacacttttctctcagatgacagaattactccaacttcccctttgcagttgcttcctttccttgaaggtagctgtatcttattttctttaaaaagctttttcttccaaagccacttgccatgccgaccgtcattagcgcatctgtggctccaaggacagcggctgagccccggtccccagggccagttcctcacccggcccagagcaaggccactgaggctgggggtggaaacccaagtggcatctattcagccatcatcagccgcaattttcctattatcggagtgaaagagaagacattcgagcaacttcacaagaaatgtctagaaaagaaagttctttatgtggaccctgagttcccaccggatgagacctctctcttttatagccagaagttccccatccagttcgtctggaagagacctccggaaatttgcgagaatccccgatttatcattgatggagccaacagaactgacatctgtcaaggagagctaggggactgctggtttctcgcagccattgcctgcctgaccctgaaccagcaccttcttttccgagtcataccccatgatcaaagtttcatcgaaaactacgcagggatcttccacttccagttctggcgctatggagagtgggtggacgtggttatagatgactgcctgccaacgtacaacaatcaactggttttcaccaagtccaaccaccgcaatgagttctggagtgctctgctggagaaggcttatgctaagctccatggttcctacgaagctctgaaaggtgggaacaccacagaggccatggaggacttcacaggaggggtggcagagttttttgagatcagggatgctcctagtgacatgtacaagatcatgaagaaagccatcgagagaggctccctcatgggctgctccattgatgatggcacgaacatgacctatggaacctctccttctggtctgaacatgggggagttgattgcacggatggtaaggaatatggataactcactgctccaggactcagacctcgaccccagaggctcagatgaaagaccgacccggacaatcattccggttcagtatgagacaagaatggcctgcgggctggtcagaggtcacgcctactctgtcacggggctggatgaggtcccgttcaaaggtgagaaagtgaagctggtgcggctgcggaatccgtggggccaggtggagtggaacggttcttggagtgatagatggaaggactggagctttgtggacaaagatgagaaggcccgtctgcagcaccaggtcactgaggatggagagttctggatgtcctatgaggatttcatctaccatttcacaaagttggagatctgcaacctcacggccgatgctctgcagtctgacaagcttcagacctggacagtgtctgtgaacgagggccgctgggtacggggttgctctgccggaggctgccgcaacttcccagatactttctggaccaaccctcagtaccgtctgaagctcctggaggaggacgatgaccctgatgactcggaggtgatttgcagcttcctggtggccctgatgcagaagaaccggcggaaggaccggaagctaggggccagtctcttcaccattggcttcgccatctacgaggttcccaaagagatgcacgggaacaagcagcacctgcagaaggacttcttcctgtacaacgcctccaaggccaggagcaaaacctacatcaacatgcgggaggtgtcccagcgcttccgcctgcctcccagcgagtacgtcatcgtgccctccacctacgagccccaccaggagggggaattcatcctccgggtcttctctgaaaagaggaacctctctgaggaagttgaaaataccatctccgtggatcggccagtgcccatcatcttcgtttcggacagagcaaacagcaacaaggagctgggtgtggaccaggagtcagaggagggcaaaggcaaaacaagccctgataagcaaaagcagtccccacagccacagcctggcagctctgatcaggaaagtgaggaacagcaacaattccggaacattttcaagcagatagcaggagatgacatggagatctgtgcagatgagctcaagaaggtccttaacacagtcgtgaacaaacacaaggacctgaagacacacgggttcacactggagtcctgccgtagcatgattgcgctcatggatacagatggctctggaaagctcaacctgcaggagttccaccacctctggaacaagattaaggcctggcagaaaattttcaaacactatgacacagaccagtccggcaccatcaacagctacgagatgcgaaatgcagtcaacgacgcaggattccacctcaacaaccagctctatgacatcattaccatgcggtacgcagacaaacacatgaacatcgactttgacagtttcatctgctgcttcgttaggctggagggcatgttcagagcttttcatgcatttgacaaggatggagatggtatcatcaagctcaacgttctggagtggctgcagctcaccatgtatgcctgaaccaggctggcctcatccaaagccatgcaggatcactcaggatttcagtttcaccctctatttccaaagccatttacctcaaaggacccagcagctacacccctacaggcttccaggcacctcatcagtcatgctcctcctccattttaccccctacccatccttgatcggtcatgcctagcctgaccctttagtaaagcaatgaggtaggaagaacaaacccttgtccctttgccatgtggaggaaagtgcctgcctctggtccgagccgcctcggttctgaagcgagtgctcctgcttaccttgctctaggctgtctgcagaagcacctgccggtggcactcagcacctccttgtgctagagccctccatcaccttcacgctgtcccaccatgggccaggaaccaaaccagcactgggttctactgctgtggggtaaactaactcagtggaatagggctggttactttgggctgtccaactcataagtttggctgcattttgaaaaaagctgatctaaataaaggcatgtgtatggctggtc
//
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_077320 -> EC 3.4.22.54
by
@meso_cacase at
DBCLS
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