2024-04-19 08:15:50, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006888 4268 bp mRNA linear PRI 24-JUN-2013 DEFINITION Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), mRNA. ACCESSION NM_006888 VERSION NM_006888.4 GI:260656023 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 4268) AUTHORS Farrer,R.G., Farrer,J.R. and DeVries,G.H. TITLE Platelet-derived growth factor-BB activates calcium/calmodulin-dependent and -independent mechanisms that mediate Akt phosphorylation in the neurofibromin-deficient human Schwann cell line ST88-14 JOURNAL J. Biol. Chem. 288 (16), 11066-11073 (2013) PUBMED 23457304 REMARK GeneRIF: the activation of the calcium/CaM/Akt pathway resulting from stimulation of overexpressed PDGF receptor-beta may contribute to the survival and tumorigenicity of MPNST cells. REFERENCE 2 (bases 1 to 4268) AUTHORS Crotti,L., Johnson,C.N., Graf,E., De Ferrari,G.M., Cuneo,B.F., Ovadia,M., Papagiannis,J., Feldkamp,M.D., Rathi,S.G., Kunic,J.D., Pedrazzini,M., Wieland,T., Lichtner,P., Beckmann,B.M., Clark,T., Shaffer,C., Benson,D.W., Kaab,S., Meitinger,T., Strom,T.M., Chazin,W.J., Schwartz,P.J. and George,A.L. Jr. TITLE Calmodulin mutations associated with recurrent cardiac arrest in infants JOURNAL Circulation 127 (9), 1009-1017 (2013) PUBMED 23388215 REMARK GeneRIF: Defects in calmodulin function disrupt calcium signaling events in heart and result in deadly disturbances in heart rhythm during infancy. REFERENCE 3 (bases 1 to 4268) AUTHORS Wang,H., Gao,X., Yang,J.J. and Liu,Z.R. TITLE Interaction between p68 RNA helicase and Ca2+-calmodulin promotes cell migration and metastasis JOURNAL Nat Commun 4, 1354 (2013) PUBMED 23322042 REMARK GeneRIF: p68, in the presence of Ca-calmodulin, can function as a microtubule motor. REFERENCE 4 (bases 1 to 4268) AUTHORS Rebas,E., Boczek,T., Kowalski,A., Kusmirowska,K., Lisek,M. and Zylinska,L. TITLE [The role of calmodulin in calcium-dependent signalling in excitable cells] JOURNAL Postepy Biochem. 58 (4), 393-402 (2012) PUBMED 23662433 REMARK GeneRIF: In this review, calmodulin (CaM) is discussed as a sensor protein, which takes part in calcium-dependent signaling, regulating processes like growth, differentiation, proliferation and motility. Review article REFERENCE 5 (bases 1 to 4268) AUTHORS Rhyner,J.A., Ottiger,M., Wicki,R., Greenwood,T.M. and Strehler,E.E. TITLE Structure of the human CALM1 calmodulin gene and identification of two CALM1-related pseudogenes CALM1P1 and CALM1P2 JOURNAL Eur. J. Biochem. 225 (1), 71-82 (1994) PUBMED 7925473 REFERENCE 6 (bases 1 to 4268) AUTHORS Kessler,F., Falchetto,R., Heim,R., Meili,R., Vorherr,T., Strehler,E.E. and Carafoli,E. TITLE Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump JOURNAL Biochemistry 31 (47), 11785-11792 (1992) PUBMED 1332771 REFERENCE 7 (bases 1 to 4268) AUTHORS Sacks,D.B., Davis,H.W., Crimmins,D.L. and McDonald,J.M. TITLE Insulin-stimulated phosphorylation of calmodulin JOURNAL Biochem. J. 286 (PT 1), 211-216 (1992) PUBMED 1520270 REFERENCE 8 (bases 1 to 4268) AUTHORS de Lillo,A., Tejerina,J.M. and Fierro,J.F. TITLE Interaction of calmodulin with lactoferrin JOURNAL FEBS Lett. 298 (2-3), 195-198 (1992) PUBMED 1544444 REFERENCE 9 (bases 1 to 4268) AUTHORS Koller,M., Schnyder,B. and Strehler,E.E. TITLE Structural organization of the human CaMIII calmodulin gene JOURNAL Biochim. Biophys. Acta 1087 (2), 180-189 (1990) PUBMED 2223880 REFERENCE 10 (bases 1 to 4268) AUTHORS SenGupta,B., Friedberg,F. and Detera-Wadleigh,S.D. TITLE Molecular analysis of human and rat calmodulin complementary DNA clones. Evidence for additional active genes in these species JOURNAL J. Biol. Chem. 262 (34), 16663-16670 (1987) PUBMED 2445749 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AL512791.3, AU122722.1, BC011834.2 and AI651063.1. This sequence is a reference standard in the RefSeqGene project. On Oct 7, 2009 this sequence version replaced gi:87196336. Summary: This gene encodes a member of the EF-hand calcium-binding protein family. It is one of three genes which encode an identical calcium binding protein which is one of the four subunits of phosphorylase kinase. Two pseudogenes have been identified on chromosome 7 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: BC047523.1, BX339621.2 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-46 AL512791.3 64066-64111 47-165 AU122722.1 1-119 166-1566 BC011834.2 120-1520 1567-4235 AL512791.3 72669-75337 4236-4268 AI651063.1 1-33 c FEATURES Location/Qualifiers source 1..4268 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q32.11" gene 1..4268 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /note="calmodulin 1 (phosphorylase kinase, delta)" /db_xref="GeneID:801" /db_xref="HGNC:1442" /db_xref="HPRD:00241" /db_xref="MIM:114180" exon 1..251 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /inference="alignment:Splign:1.39.8" variation 31 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:12885713" variation 45 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:184206045" variation 46 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:111249181" variation 76 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:188359112" variation 81 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:146545930" variation 85 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:181001910" variation 88 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:141007341" variation 97 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="g" /replace="t" /db_xref="dbSNP:12886186" misc_feature 141..143 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /note="upstream in-frame stop codon" variation 158..163 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="gcagcg" /db_xref="dbSNP:200148015" variation 163 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:12886342" variation 217 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:12886083" variation 227 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:369555148" variation 232 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:372252650" CDS 249..698 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /EC_number="2.7.11.19" /note="phosphorylase kinase, delta subunit; prepro-calmodulin 1" /codon_start=1 /product="calmodulin" /protein_id="NP_008819.1" /db_xref="GI:5901912" /db_xref="CCDS:CCDS9892.1" /db_xref="GeneID:801" /db_xref="HGNC:1442" /db_xref="HPRD:00241" /db_xref="MIM:114180" /translation="
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDTDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK
" misc_feature 249..695 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" misc_feature 252..254 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="N-acetylalanine; propagated from UniProtKB/Swiss-Prot (P62158.2); acetylation site" misc_feature 282..470 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /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:238008" misc_feature order(309..311,315..317,321..323,342..344,417..419, 423..425,429..431,450..452) /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:238008" misc_feature 312..314 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine, alternate; propagated from UniProtKB/Swiss-Prot (P62158.2); acetylation site" misc_feature 501..689 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /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:238008" misc_feature order(528..530,534..536,540..542,561..563,636..638, 642..644,648..650,669..671) /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /note="Ca2+ binding site [ion binding]; other site" /db_xref="CDD:238008" misc_feature 531..533 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (P62158.2); acetylation site" misc_feature 546..548 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (P62158.2); phosphorylation site" misc_feature 546..548 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00579" misc_feature 546..548 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00975" misc_feature 552..554 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (P62158.2); phosphorylation site" misc_feature 594..596 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="N6,N6,N6-trimethyllysine; propagated from UniProtKB/Swiss-Prot (P62158.2); methylation site" misc_feature 594..596 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="methylation site" misc_feature 663..665 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="Phosphotyrosine; propagated from UniProtKB/Swiss-Prot (P62158.2); phosphorylation site" misc_feature 663..665 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /experiment="experimental evidence, no additional details recorded" /note="phosphorylation site" /db_xref="HPRD:00975" exon 252..282 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /inference="alignment:Splign:1.39.8" variation 277 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:373571763" exon 283..426 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /inference="alignment:Splign:1.39.8" variation 317 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:144339242" variation 320 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:267607278" variation 367 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:199950662" variation 373 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:199897752" variation 397 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:202194260" variation 409 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:267607276" exon 427..533 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /inference="alignment:Splign:1.39.8" STS 441..597 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="GDB:433805" /db_xref="UniSTS:157197" variation 491 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:200250055" variation 520 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:11541171" exon 534..669 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /inference="alignment:Splign:1.39.8" variation 541 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:267607277" variation 551 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:143503733" variation 572 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:139706811" variation 614 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:370441016" variation 650 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:193072150" variation 665 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:377521523" exon 670..4256 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /inference="alignment:Splign:1.39.8" variation 674 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:199744595" variation 675 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:370956572" variation 709 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="g" /replace="t" /db_xref="dbSNP:201339726" variation 716 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:200742588" STS 721..1545 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="Calm1" /db_xref="UniSTS:506762" variation 722 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:372713000" variation 855 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:111354847" variation 975 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:183167213" variation 981 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:367695382" variation 1026 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:371446473" STS 1031..1192 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="G54145" /db_xref="UniSTS:109382" variation 1115 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:5871" STS 1173..1315 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="WI-18834" /db_xref="UniSTS:36651" variation 1219 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:112958092" variation 1319 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:187714594" variation 1434 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:1059285" variation 1472..1473 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="gg" /db_xref="dbSNP:139060064" STS 1474..1733 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="RH70561" /db_xref="UniSTS:72957" variation 1477 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:199697317" variation 1551..1552 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="t" /db_xref="dbSNP:35149335" variation 1551 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:370254226" variation 1552..1553 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="t" /db_xref="dbSNP:71823341" variation 1557 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="t" /db_xref="dbSNP:71771679" variation 1566..1567 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="t" /replace="ttt" /db_xref="dbSNP:56856377" variation 1567 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:111860684" STS 1595..1834 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S98E" /db_xref="UniSTS:58767" STS 1714..1791 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S98E" /db_xref="UniSTS:147484" STS 1722..1871 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="SHGC-30527" /db_xref="UniSTS:33778" variation 1735 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:11541170" variation 1736 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:116646015" variation 1780 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:1059296" variation 1836..1837 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="tt" /db_xref="dbSNP:374013990" variation 1842 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:373356188" variation 1870 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:61989066" variation 1872..1873 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="aa" /db_xref="dbSNP:80212837" variation 1872 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="a" /db_xref="dbSNP:11287138" variation 1872 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:63576962" variation 1873 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:77928599" variation 1882 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:77916091" variation 1885 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:78459823" variation 1895 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:146008731" variation 1980 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:115723958" variation 1992..1993 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="tg" /db_xref="dbSNP:202213644" variation 2001 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:376504500" variation 2002 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:138659409" variation 2048 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:75951656" variation 2068 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:192521929" variation 2088 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:183678923" variation 2089 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:369307361" variation 2116..2118 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="cct" /db_xref="dbSNP:67661612" variation 2118 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:3814846" variation 2125..2126 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="cc" /db_xref="dbSNP:71461906" variation 2125 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:61989067" variation 2127..2128 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="c" /db_xref="dbSNP:200711428" variation 2127 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="t" /db_xref="dbSNP:71461907" variation 2128 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:75202062" variation 2142 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:3814845" STS 2173..2266 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S89E" /db_xref="UniSTS:147526" variation 2175 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:373565285" STS 2177..2281 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S642E" /db_xref="UniSTS:11318" STS 2242..2434 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S89E" /db_xref="UniSTS:17090" STS 2272..2372 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="1928" /db_xref="UniSTS:47094" STS 2279..2387 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S1231" /db_xref="UniSTS:69176" variation 2332 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:375596643" variation 2380 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:141870617" variation 2396 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:3814844" STS 2400..2499 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S89E" /db_xref="UniSTS:147442" variation 2537 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:369706187" variation 2540 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:186848664" variation 2568 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:35418035" variation 2647 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:374437556" variation 2650 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:3814843" variation 2662 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:139692985" variation 2714 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:192452102" variation 2783 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:184803743" variation 2824 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:149760583" variation 2834 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:370139244" variation 2861..2862 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="ca" /db_xref="dbSNP:374154318" variation 2901 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:189778902" variation 2909 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:181805019" variation 2916 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="g" /replace="t" /db_xref="dbSNP:184371119" variation 2937 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:367855711" variation 2948 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="g" /replace="t" /db_xref="dbSNP:189147924" variation 2949 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:181955035" variation 3049 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:3179089" variation 3351 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:184950622" variation 3363..3369 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="ataagaa" /db_xref="dbSNP:200991845" variation 3410 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:11539544" variation 3435 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:1058903" variation 3548 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:367644606" variation 3556..3559 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="acac" /db_xref="dbSNP:150072386" variation 3645 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:140025082" variation 3678 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:115172487" STS 3770..3977 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="G06214" /db_xref="UniSTS:24581" variation 3786 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:145426711" STS 3828..3977 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="RH11243" /db_xref="UniSTS:24582" STS 3831..3932 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="D14S901" /db_xref="UniSTS:42830" variation 3916 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:147728175" STS 3943..4153 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="EST13B3" /db_xref="UniSTS:263093" STS 3958..4088 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="RH11167" /db_xref="UniSTS:77599" STS 3962..4165 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="SSC3C06" /db_xref="UniSTS:253869" variation 3965 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:370549807" variation 3975 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="g" /db_xref="dbSNP:142500788" variation 3981 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="c" /replace="t" /db_xref="dbSNP:144946670" variation 4006 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="t" /db_xref="dbSNP:371784290" polyA_signal 4015..4020 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" polyA_site 4035 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" STS 4072..4237 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="IB3608" /db_xref="UniSTS:53368" variation 4087 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="c" /db_xref="dbSNP:190976650" STS 4089..4239 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /standard_name="RH130082" /db_xref="UniSTS:213370" variation 4090..4091 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="" /replace="g" /db_xref="dbSNP:200917629" variation 4161 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" /replace="a" /replace="g" /db_xref="dbSNP:15414" polyA_signal 4219..4224 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" polyA_site 4256 /gene="CALM1" /gene_synonym="CALML2; caM; CAMI; CPVT4; DD132; PHKD" ORIGIN
gatacggcgcaccatatatatatcgcggggcgcagactcgcgctccggcagtggtgctgggagtgtcgtggacgccgtgccgttactcgtagtcaggcggcggcgcaggcggcggcggcggcatagcgcacagcgcgccttagcagcagcagcagcagcagcggcatcggaggtacccccgccgtcgcagcccccgcgctggtgcagccaccctcgctccctctgctcttcctcccttcgctcgcaccatggctgatcagctgaccgaagaacagattgctgaattcaaggaagccttctccctatttgataaagatggcgatggcaccatcacaacaaaggaacttggaactgtcatgaggtcactgggtcagaacccaacagaagctgaattgcaggatatgatcaatgaagtggatgctgatggtaatggcaccattgacttccccgaatttttgactatgatggctagaaaaatgaaagatacagatagtgaagaagaaatccgtgaggcattccgagtctttgacaaggatggcaatggttatatcagtgcagcagaactacgtcacgtcatgacaaacttaggagaaaaactaacagatgaagaagtagatgaaatgatcagagaagcagatattgatggagacggacaagtcaactatgaagaattcgtacagatgatgactgcaaaatgaagacctactttcaactcctttttcccccctctagaagaatcaaattgaatcttttacttacctcttgcaaaaaaaagaaaaaagaaaaaagttcatttattcattctgtttctatatagcaaaactgaatgtcaaaagtaccttctgtccacacacacaaaatctgcatgtattggttggtggtcctgtcccctaaagatcaagctacacatcagttttacaatataaatacttgtactaccttaatgataaggactccttaaagttccatttgctaatgattaatacactgtttgggctggccagtttttcatgcatgcagcttgacgattgagcacagtcaggcctttgtattaaaaatgaaaaatgaaaaaacaaattcaaaacctattcaaatgggttctagttcaatttgtttagtataaattgtcatagctggtttactgaaaacaaacacatttaaaattggtttacctcaggatgacgtgcagaaaaatgggtgaaggataaaccgttgagacgtggccccactggtaggatggtcctcttgtacttcgtgtgctccgacccatggtgacgatgacacaccctggtggcatgcccgtgtatgttggtttagcgttgtctgcattgttctagagtgaaacaggtgtcaggctgtcactgttcacacaaatttttaataagaaacatttaccaagggagcatctttggactctctgtttttaaaaccttctgaaccatgacttggagccggcagagtaggctgtggctgtggacttcagcacaaccatcaacattgctgttcaaagaaattacagtttacgtccattccaagttgtaaatgctagtctttttttttttttttccaataaaaagaccattaacttaaagtggtgttaaatgctttgtaaagctgagatctaaatggggacaaggcaggtggaggggaggccagtgtacatgtaaatgcccacagcccagcattgggtttccctcccaaggccccagcaccaacctctgagcccaagaccttgcctgaaaacaagcagataccgattgcttcatcctatttatggacatgtaggtctagttgcattttcactggggggaggggggaaggtgaattatggtaacttttaatgatctattcaggcagtagagctcttaaggaaaaaaaaaaacccactttctctcaagcatgtatttaggggttgttctcaattgtgctgctgattacctgtcttatgtaactacttgagaccatctgcaagagacatgatttagtgtgtctgtaattcaatcttcgctgtgtgtggtagaagcagtagtcacttttgtaagccagtctcttcatgcctaaaagacactaccagtcacctttgattcgcgacttttaatttatgattatacttagcctcctcctcctttttttttttttcccaagttgacttgactttgcttttttccccccaagtagaactaatgctagcttccagcttgaaagtaaaactccagtgtggagtgaattttgtgtctaattataaacctgtaaccaaaactcagacatctggtactggtctttgcattgagattggtccctgtaaaaccccctttaaaagcatattgcatttagtacagagctcttttttgaaatgaaggctggagatgtgcatttttcacggtgttaactggttgtatcttattagcaaggagattggggttttgagtgtttgcgtgggtggtttcaatttgccagggaacagtggcaggctgctagcaaggcagtgagaagctcttggcagccaaatgggtgcattcagggctgatttatagagacccttggcttctccttctcctactccctgtctttctggcattttgtagcttgttagattttctgccagaggggtgggtcagagcagtggaggggagacatcgcccatgtgcttctgctactggtccttgggctgggtggttggtagaggagatgttgacactatgagctaagggttggcttttgtaattacctgaatctgaaaggaatgcctaaggttaccttggggtttctcttctggtgagatagggttcctggtttgagtaagttaatgtcctggatatttcttgtggcagggggtggtcaaagagcctgattgctgacccagtctcaggcctgtggtcgatgacctctcggtagtttcaaagggggctggagggggatatttgacttgttttttcgaaatgtagccttctaaccctcaagtctttagaagctgggtggactcttagtggtcctgcagcgtatcctaaaagactacctttgaaacaggattcttgtatggccaggatcctgtctgggaaccagaaaccctacaccctccccctccagggaatgctgagttccagttttgagcagaggtgaggcagaatccactgtagccttccgccctggtatttggggggatgaccagcccaggcgttgggtgttagtctgcatgagtttgtgagaggaaatagctgggtgtcctggcagtgcccttgaagttggttaggaccttcctgtaaactcttgcccctacttctaactactctataaatatatacatatatttatatataaagtgattagttgaactggcatcctgctttagcctgagacttgccataagaaactgctgagtacttggcaaaccctttcatagttttgttctccatctgtttggggtaggtgttgagcgaggcaaatggatctcgatatttcagatgggcttttgatgcactgttgccaaggaaggctttttctgattttttgacaaatgaatttttgcacactttcattggtgtctttcggcaacttacacacattgaaaatgagctattgtacatatttttatattctctttataaatgcatgtctgattgtacttgtaacaatattgtaatgaacggctgtgcagtaggcccagcgctgctgtgtctcgtcagaggaatagcttaccacgaacccctcagcatactgggaatctcttcctgaacaacgaatgtaaatttggtcaagtctactcttccgttcattcaattattttaagcatttgaattatttattgtatatcctaaatatatttctcctttggcagtgactagatttccactaatgtgtcttaatctatccctccagctggcagttactgtttttttaatcccctgaagttgtcctgtaggagacagaaattctttgctgtctgtatcccttggagtaagaaggtagtggcatgggtggagtgtgtgttctttctccaaatctattatgatgtttattaaacacttctgtagcaaagatggtggtagttcttttgttactgaagttgcccttcaccatggctatttgaaaaggagatgtacttggacgtttctgtaaatcttgagataaactgtttggagatttaaccacctctctgatgggggaccaactctatggaaattgtaaatacgttttatttataaacctggcactgtattcaataaacatttctgcagcctttcatctctaactgcgaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): NP_008819 -> EC 2.7.11.19
by
@meso_cacase at
DBCLS
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