Paralogue Annotation for CACNA1C residue 1046

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1046
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1046

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	M1351R	Brugada syndrome	Medium	9	20129283

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	KHVVQCVFVAIRTIGNIVIVTTLLQFMFAC>I<GVQLFKGKLYTCSDSSKQTEAECKGNYITY	1076
CACNA1A	KAVFDCVVNSLKNVFNILIVYMLFMFIFAV>V<AVQLFKGKFFHCTDESKEFEKDCRGKYLLY	1424
CACNA1B	KAVFDCVVNSLKNVLNILIVYMLFMFIFAV>I<AVQLFKGKFFYCTDESKELERDCRGQYLDY	1330
CACNA1D	KHVVQCVFVAIRTIGNIMIVTTLLQFMFAC>I<GVQLFKGKFYRCTDEAKSNPEECRGLFILY	1082
CACNA1E	KAVFDCVVTSLKNVFNILIVYKLFMFIFAV>I<AVQLFKGKFFYCTDSSKDTEKECIGNYVDH	1336
CACNA1F	KHVVQCVFVAIRTIGNIMIVTTLLQFMFAC>I<GVQLFKGKFYTCTDEAKHTPQECKGSFLVY	1047
CACNA1G	KLVVETLMSSLKPIGNIVVICCAFFIIFGI>L<GVQLFKGKFFVCQGED---------TRNIT	1450
CACNA1H	KLVVETLISSLRPIGNIVLICCAFFIIFGI>L<GVQLFKGKFYYCEGPD---------TRNIS	1468
CACNA1I	KLVVETLISSLKPIGNIVLICCAFFIIFGI>L<GVQLFKGKFYHCLGVD---------TRNIT	1344
CACNA1S	KHVVQCMFVAISTIGNIVLVTTLLQFMFAC>I<GVQLFKGKFFRCTDLSKMTEEECRGYYYVY	975
SCN10A	RVVVDALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFWRCINYTDGEF-SLVPLSIVN	1327
SCN11A	KVVVNALIGAIPAILNVLLVCLIFWLVFCI>L<GVYFFSGKFGKCINGTDSVI----NYTIIT	1221
SCN1A	RVVVNALLGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYHCINTTTGDR---FDIEDVN	1391
SCN2A	RVVVNALLGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYHCINYTTGEM---FDVSVVN	1381
SCN3A	RVVVNALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYHCVNMTTGNM---FDISDVN	1379
SCN4A	RVVVNALLGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYYCINTTTSER---FDISEVN	1204
SCN5A	RVVVNALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFGRCINQTEGDL-P-LNYTIVN	1379
SCN7A	KVVVRALIKTTLPTLNVFLVCLMIWLIFSI>M<GVDLFAGRFYECIDPTSGER---FPSSEVM	1102
SCN8A	RVVVNALVGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKYHYCFNETSEIR---FEIEDVN	1371
SCN9A	RVVVNALIGAIPSIMNVLLVCLIFWLIFSI>M<GVNLFAGKFYECINTTDGSR---FPASQVP	1354
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1046V	c.3136A>G	Putative Benign			SIFT: Polyphen: