Paralogue Annotation for CACNA1C residue 647

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 647
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 647

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS835LBrugada syndromeHigh9 15277732

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.



CACNA1CSVLRCVRLLRIFKITRYWNSLSNLVASLLN>S<VRSIASLLLLLFLFIIIFSLLGMQLFGGKF677
CACNA1ASVLRALRLLRIFKVTKYWASLRNLVVSLLN>S<MKSIISLLFLLFLFIVVFALLGMQLFGGQF640
CACNA1BSVLRALRLLRIFKVTKYWSSLRNLVVSLLN>S<MKSIISLLFLLFLFIVVFALLGMQLFGGQF636
CACNA1DSVFRCVRLLRIFKVTRHWTSLSNLVASLLN>S<MKSIASLLLLLFLFIIIFSLLGMQLFGGKF696
CACNA1ESVLRALRLLRIFKITKYWASLRNLVVSLMS>S<MKSIISLLFLLFLFIVVFALLGMQLFGGRF629
CACNA1FSVLRCVRLLRIFKVTRHWASLSNLVASLLN>S<MKSIASLLLLLFLFIIIFSLLGMQLFGGKF682
CACNA1GSVLRTFRLMRVLKLVRFLPALQRQLVVLMK>T<MDNVATFCMLLMLFIFIFSILGMHLFGCKF891
CACNA1HSVLRTFRLLRVLKLVRFLPALRRQLVVLVK>T<MDNVATFCTLLMLFIFIFSILGMHLFGCKF941
CACNA1ISVLRTFRLLRVLKLVRFMPALRRQLVVLMK>T<MDNVATFCMLLMLFIFIFSILGMHIFGCKF788
CACNA1SSVLRCIRLLRIFKITKYWTSLSNLVASLLN>S<IRSIASLLLLLFLFIVIFALLGMQLFGGRY585
SCN10ASVLRSFRLLRVFKLAKSWPTLNTLIKIIGN>S<VGALGNLTIILAIIVFVFALVGKQLLGENY813
SCN11APFLRSFRVLRVFKLAKSWPTLNTLIKIIGN>S<VGALGSLTVVLVIVIFIFSVVGMQLFGRSF727
SCN1ASVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY916
SCN2ASVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY907
SCN3ASVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY908
SCN4ASVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY726
SCN5ASVLRSFRLLRVFKLAKSWPTLNTLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKNY865
SCN7AALLRLFRMLRIFKLGKYWPTFQILMWSLSN>S<WVALKDLVLLLFTFIFFSAAFGMKLFGKNY653
SCN8ASVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY901
SCN9ASVLRSFRLLRVFKLAKSWPTLNMLIKIIGN>S<VGALGNLTLVLAIIVFIFAVVGMQLFGKSY881
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S647Ac.1939T>G Putative BenignSIFT:
Polyphen: