Paralogue Annotation for CACNA1C residue 142

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 142
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 142

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A149V	Sudden unexplained death	High	9	24631775

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.

CACNA1C	PIRRACISIVEWKPFEIIILLTIFANCVAL>A<IYIPFPEDDSNATNSNLERVEYLFLI-IFT	171
CACNA1A	VVRKYAKKITEWPPFEYMILATIIANCIVL>A<LEQHLPDDDKTPMSERLDDTEPYFIG-IFC	145
CACNA1B	VVRKYAKRITEWPPFEYMILATIIANCIVL>A<LEQHLPDGDKTPMSERLDDTEPYFIG-IFC	142
CACNA1D	PIRRACISIVEWKPFDIFILLAIFANCVAL>A<IYIPFPEDDSNSTNHNLEKVEYAFLI-IFT	173
CACNA1E	IVRKYAKKLIDWPPFEYMILATIIANCIVL>A<LEQHLPEDDKTPMSRRLEKTEPYFIG-IFC	136
CACNA1F	PLRRSCISIVEWKPFDILILLTIFANCVAL>G<VYIPFPEDDSNTANHNLEQVEYVFLV-IFT	139
CACNA1G	RPRSWCLRTVCNPWFERISMLVILLNCVTL>G<MFRPCEDIACDSQRCRILQAFDDFIFAFFA	129
CACNA1H	RPRSWCLRLVCNPWFEHVSMLVIMLNCVTL>G<MFRPCEDVECGSERCNILEAFDAFIFAFFA	148
CACNA1I	SPRNWCIKMVCNPWFECVSMLVILLNCVTL>G<MYQPCDDMDCLSDRCKILQVFDDFIFIFFA	127
CACNA1S	PLRKACISIVEWKPFETIILLTIFANCVAL>A<VYLPMPEDDNNSLNLGLEKLEYFFLI-VFS	98
SCN10A	LIRRTAIKVSVHSWFSLFITVTILVNCVCM>T<RT------D-LPE-----KIEYVFTV-IYT	165
SCN11A	SIRSLAIRVSVHSLFSMFIIGTVIINCVFM>A<TGPA-K--NSNSNNT--DIAECVFTG-IYI	171
SCN1A	PLRKIAIKILVHSLFSMLIMCTILTNCVFM>T<MS------N-PPDWT--KNVEYTFTG-IYT	166
SCN2A	PIRKLAIKILVHSLFNMLIMCTILTNCVFM>T<MS------N-PPDWT--KNVEYTFTG-IYT	167
SCN3A	PVRKIAIKILVHSLFSMLIMCTILTNCVFM>T<LS------N-PPDWT--KNVEYTFTG-IYT	166
SCN4A	VVRRGAIKVLIHALFSMFIMITILTNCVFM>T<MS------D-PPPWS--KNVEYTFTG-IYT	169
SCN5A	PIRRAAVKILVHSLFNMLIMCTILTNCVFM>A<QH------D-PPPWT--KYVEYTFTA-IYT	169
SCN7A	CIRRTTIKVLVHPFFQLFILISVLIDCVFM>S<LT------N-LPKWR--PVLENTLLG-IYT	156
SCN8A	LIRRIAIKILIHSVFSMIIMCTILTNCVFM>T<FS------N-PPDWS--KNVEYTFTG-IYT	170
SCN9A	PLRRISIKILVHSLFSMLIMCTILTNCIFM>T<MN------N-PPDWT--KNVEYTFTG-IYT	164
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 142 for CACNA1C.