Paralogue Annotation for CACNA1C residue 1226

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1226
Reference Amino Acid: F - Phenylalanine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to CACNA1C residue 1226

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN4A	M1360V	Hyperkalaemic periodic paralysis	Medium	9	8215982, 12562902

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	-LRRYIPK--NQHQYKVWYVVNSTYFEYLM>F<VLILLNTICLAMQHYGQSCLFKIAMNILNM	1256
CACNA1A	-LTRHMPQNKQSFQYRMWQFVVSPPFEYTI>M<AMIALNTIVLMMKFYGASVAYENALRVFNI	1603
CACNA1B	-LTRYMPQNRQSFQYKTWTFVVSPPFEYFI>M<AMIALNTVVLMMKFYDAPYEYELMLKCLNI	1509
CACNA1D	-LRRYIPK--NPYQYKFWYVVNSSPFEYMM>F<VLIMLNTLCLAMQHYEQSKMFNDAMDILNM	1262
CACNA1E	-LTRYMPQNRHTFQYRVWHFVVSPSFEYTI>M<AMIALNTVVLMMKYYSAPCTYELALKYLNI	1515
CACNA1F	-LRRYIPK--NPHQYRVWATVNSAAFEYLM>F<LLILLNTVALAMQHYEQTAPFNYAMDILNM	1227
CACNA1G	AQCKPYYSDYSRFRLLVHHLCTSHYLDLFI>T<GVIGLNVVTMAMEHYQQPQILDEALKICNY	1648
CACNA1H	--RRPYYADYSPTRRSIHSLCTSHYLDLFI>T<FIICVNVITMSMEHYNQPKSLDEALKYCNY	1654
CACNA1I	--RLPYYATYCHTRLLIHSMCTSHYLDIFI>T<FIICLNVVTMSLEHYNQPTSLETALKYCNY	1524
CACNA1S	-LRCYIPK--NPYQYQVWYIVTSSYFEYLM>F<ALIMLNTICLGMQHYNQSEQMNHISDILNV	1155
SCN10A	--QKPIPRPLNKFQGFVFDIVTRQAFDITI>M<VLICLNMITMMVETDDQSEEKTKILGKINQ	1513
SCN11A	--QKPIPRPLNKCQGLVFDIVTSQIFDIII>I<SLIILNMISMMAESYNQPKAMKSILDHLNW	1403
SCN1A	--QKPIPRPGNKFQGMVFDFVTRQVFDISI>M<ILICLNMVTMMVETDDQSEYVTTILSRINL	1578
SCN2A	--QKPIPRPANKFQGMVFDFVTKQVFDISI>M<ILICLNMVTMMVETDDQSQEMTNILYWINL	1568
SCN3A	--QKPIPRPANKFQGMVFDFVTRQVFDISI>M<ILICLNMVTMMVETDDQGKYMTLVLSRINL	1563
SCN4A	--QKPIPRPQNKIQGMVYDLVTKQAFDITI>M<ILICLNMVTMMVETDNQSQLKVDILYNINM	1390
SCN5A	--QKPIPRPLNKYQGFIFDIVTKQAFDVTI>M<FLICLNMVTMMVETDDQSPEKINILAKINL	1565
SCN7A	--QRPVPRPLNKLQGFIFDVVTSQAFNVIV>M<VLICFQAIAMMIDTDVQSLQMSIALYWINS	1288
SCN8A	--QKPIPRPLNKIQGIVFDFVTQQAFDIVI>M<MLICLNMVTMMVETDTQSKQMENILYWINL	1559
SCN9A	--QKPIPRPGNKIQGCIFDLVTNQAFDISI>M<VLICLNMVTMMVEKEGQSQHMTEVLYWINV	1541
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F1226L	c.3678C>G	Putative Benign			SIFT: Polyphen: