Paralogue Annotation for CACNA1C residue 519

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 519
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 519

No paralogue variants have been mapped to residue 519 for CACNA1C.



CACNA1C----AHR-ISKSKFSRYWRRWNRFCRRKCR>A<AVKSNVFYWLVIFLVFLNTLTIASEHYNQP549
CACNA1A----SIK-SAKLENSTFFHKKERRMRFYIR>R<MVKTQAFYWTVLSLVALNTLCVAIVHYNQP512
CACNA1B----SLK-SGKTESSSYFRRKEKMFRFFIR>R<MVKAQSFYWVVLCVVALNTLCVAMVHYNQP508
CACNA1D----GQA-ISKSKLSRRWRRWNRFNRRRCR>A<AVKSVTFYWLVIVLVFLNTLTISSEHYNQP568
CACNA1E----SIK-SAKVDGVSYFRHKERLLRISIR>H<MVKSQVFYWIVLSLVALNTACVAIVHHNQP501
CACNA1F----LNK-IMKTRVCRRLRRANRVLRARCR>R<AVKSNACYWAVLLLVFLNTLTIASEHHGQP554
CACNA1G-------SLGPDAEPSSVLAFWRLICDTFR>K<IVDSKYFGRGIMIAILVNTLSMGIEYHEQP768
CACNA1HPQRRAQQRAAPGE-PGWMGRLWVTFSGKLR>R<IVDSKYFSRGIMMAILVNTLSMGVEYHEQP818
CACNA1IKEEEEEE-QADGA-VWLCGDVWRETRAKLR>G<IVDSKYFNRGIMMAILVNTVSMGIEHHEQP665
CACNA1S----LNK-I--IQFIRHWRQWNRIFRWKCH>D<IVKSKVFYWLVILIVALNTLSIASEHHNQP457
SCN10A----LTS-LSQKYLIWDCCPMWVKLKTILF>G<LVTDPFAELTITLCIVVNTIFMAMEHHGMS690
SCN11A----GEN-LASKYLVWNCCPQWLCVKKVLR>T<VMTDPFTELAITICIIINTVFLAMEHHKME602
SCN1A----WYK-FSNIFLIWDCSPYWLKVKHVVN>L<VVMDPFVDLAITICIVLNTLFMAMEHYPMT793
SCN2A----WYK-FANMCLIWDCCKPWLKVKHLVN>L<VVMDPFVDLAITICIVLNTLFMAMEHYPMT784
SCN3A----WYR-FANVFLIWDCCDAWLKVKHLVN>L<IVMDPFVDLAITICIVLNTLFMAMEHYPMT785
SCN4A----WYK-CAHKVLIWNCCAPWLKFKNIIH>L<IVMDPFVDLGITICIVLNTLFMAMEHYPMT603
SCN5A----WNR-LAQRYLIWECCPLWMSIKQGVK>L<VVMDPFTDLTITMCIVLNTLFMALEHYNMT742
SCN7A----WYK-FAKTFLIWNCSPCWLKLKEFVH>R<IIMAPFTDLFLIICIILNVCFLTLEHYPMS530
SCN8A----WYK-FANTFLIWECHPYWIKLKEIVN>L<IVMDPFVDLAITICIVLNTLFMAMEHHPMT778
SCN9A----WYR-FAHKFLIWNCSPYWIKFKKCIY>F<IVMDPFVDLAITICIVLNTLFMAMEHHPMT758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A519Tc.1555G>A Putative BenignSIFT: tolerated
Polyphen: possibly damaging