Paralogue Annotation for CACNA1C residue 655

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 655
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 655

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT843ALong QT syndromeMedium9 16244680
SCN4AT704MHyperkalaemic periodic paralysisMedium9 1659948, 16870577, 19077043, 10366610, 23527931, 26256659, 7809121

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.



CACNA1CLRIFKITRYWNSLSNLVASLLNSVRSIASL>L<LLLFLFIIIFSLLGMQLFGGKFNFD-E---681
CACNA1ALRIFKVTKYWASLRNLVVSLLNSMKSIISL>L<FLLFLFIVVFALLGMQLFGGQFNFD-E---644
CACNA1BLRIFKVTKYWSSLRNLVVSLLNSMKSIISL>L<FLLFLFIVVFALLGMQLFGGQFNFQ-D---640
CACNA1DLRIFKVTRHWTSLSNLVASLLNSMKSIASL>L<LLLFLFIIIFSLLGMQLFGGKFNFD-E---700
CACNA1ELRIFKITKYWASLRNLVVSLMSSMKSIISL>L<FLLFLFIVVFALLGMQLFGGRFNFN-D---633
CACNA1FLRIFKVTRHWASLSNLVASLLNSMKSIASL>L<LLLFLFIIIFSLLGMQLFGGKFNFD-Q---686
CACNA1GMRVLKLVRFLPALQRQLVVLMKTMDNVATF>C<MLLMLFIFIFSILGMHLFGCKFASER----895
CACNA1HLRVLKLVRFLPALRRQLVVLVKTMDNVATF>C<TLLMLFIFIFSILGMHLFGCKFSLKTD---946
CACNA1ILRVLKLVRFMPALRRQLVVLMKTMDNVATF>C<MLLMLFIFIFSILGMHIFGCKFSLRTD---793
CACNA1SLRIFKITKYWTSLSNLVASLLNSIRSIASL>L<LLLFLFIVIFALLGMQLFGGRYDFE-D---589
SCN10ALRVFKLAKSWPTLNTLIKIIGNSVGALGNL>T<IILAIIVFVFALVGKQLLGENYRNN-RKN-819
SCN11ALRVFKLAKSWPTLNTLIKIIGNSVGALGSL>T<VVLVIVIFIFSVVGMQLFGRSFNSQ-KSPK734
SCN1ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKDC-VCK-922
SCN2ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-913
SCN3ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-914
SCN4ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-732
SCN5ALRVFKLAKSWPTLNTLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKNYSEL-RDS-871
SCN7ALRIFKLGKYWPTFQILMWSLSNSWVALKDL>V<LLLFTFIFFSAAFGMKLFGKNYEEF-VCH-659
SCN8ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-907
SCN9ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-887
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 655 for CACNA1C.