Paralogue Annotation for CACNA1C residue 628

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 628
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 628

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AF816YLong QT syndromeHigh9 19716085, 27287068

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.



CACNA1CGGILETILVETKIMSPLGISVLRCVRLLRI>F<KITRYWNSLSNLVASLLNSVRSIASLLLLL658
CACNA1AGSIFEVIWAVIKPGTSFGISVLRALRLLRI>F<KVTKYWASLRNLVVSLLNSMKSIISLLFLL621
CACNA1BGSVFEVVWAAIKPGSSFGISVLRALRLLRI>F<KVTKYWSSLRNLVVSLLNSMKSIISLLFLL617
CACNA1DGGITETILVELEIMSPLGISVFRCVRLLRI>F<KVTRHWTSLSNLVASLLNSMKSIASLLLLL677
CACNA1EGSIFEVVWAIFRPGTSFGISVLRALRLLRI>F<KITKYWASLRNLVVSLMSSMKSIISLLFLL610
CACNA1FGGILETTLVEVGAMQPLGISVLRCVRLLRI>F<KVTRHWASLSNLVASLLNSMKSIASLLLLL663
CACNA1GISVWEIVGQQGG-----GLSVLRTFRLMRV>L<KLVRFLPALQRQLVVLMKTMDNVATFCMLL872
CACNA1HISVWEIVGQADG-----GLSVLRTFRLLRV>L<KLVRFLPALRRQLVVLVKTMDNVATFCTLL922
CACNA1IISIWEIVGQADG-----GLSVLRTFRLLRV>L<KLVRFMPALRRQLVVLMKTMDNVATFCMLL769
CACNA1SSGILEILLVESGAMTPLGISVLRCIRLLRI>F<KITKYWTSLSNLVASLLNSIRSIASLLLLL566
SCN10AVSLLELGVAKKG-----SLSVLRSFRLLRV>F<KLAKSWPTLNTLIKIIGNSVGALGNLTIIL794
SCN11ALSFADVMNCVLQKR---SWPFLRSFRVLRV>F<KLAKSWPTLNTLIKIIGNSVGALGSLTVVL708
SCN1ALSLVELGLANVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL897
SCN2ALSLMELGLANVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL888
SCN3ALSLMELGLSNVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL889
SCN4ALSLVELGLANVQ-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL707
SCN5ALSLMELGLSRMS-----NLSVLRSFRLLRV>F<KLAKSWPTLNTLIKIIGNSVGALGNLTLVL846
SCN7AHGLIELCLANVA-----GMALLRLFRMLRI>F<KLGKYWPTFQILMWSLSNSWVALKDLVLLL634
SCN8ALSLMELSLADVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL882
SCN9ALSLVELFLADVE-----GLSVLRSFRLLRV>F<KLAKSWPTLNMLIKIIGNSVGALGNLTLVL862
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 628 for CACNA1C.