Paralogue Annotation for CACNA1C residue 596

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 596
Reference Amino Acid: V - Valine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 596

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	V789I	Brugada syndrome	High	6	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	LFTAEMLLKMYSLGLQAYFVSLFNRFDCFV>V<CGGILETILVETKIMSPLGISVLRCVRLLR	626
CACNA1A	LFMSEMFIKMYGLGTRPYFHSSFNCFDCGV>I<IGSIFEVIWAVIKPGTSFGISVLRALRLLR	589
CACNA1B	LFLTEMSLKMYGLGPRSYFRSSFNCFDFGV>I<VGSVFEVVWAAIKPGSSFGISVLRALRLLR	585
CACNA1D	LFTCEMLVKMYSLGLQAYFVSLFNRFDCFV>V<CGGITETILVELEIMSPLGISVFRCVRLLR	645
CACNA1E	LFLLEMSLKMYGMGPRLYFHSSFNCFDFGV>T<VGSIFEVVWAIFRPGTSFGISVLRALRLLR	578
CACNA1F	LFTVEMLLKLYGLGPSAYVSSFFNRFDCFV>V<CGGILETTLVEVGAMQPLGISVLRCVRLLR	631
CACNA1G	LFALEMLLKLLVYGPFGYIKNPYNIFDGVI>V<VISVWEIVGQQGG-----GLSVLRTFRLMR	840
CACNA1H	MFALEMLLKLLACGPLGYIRNPYNIFDGII>V<VISVWEIVGQADG-----GLSVLRTFRLLR	890
CACNA1I	MFALEMILKLAAFGLFDYLRNPYNIFDSII>V<IISIWEIVGQADG-----GLSVLRTFRLLR	737
CACNA1S	LFTTEMLMKMYGLGLRQYFMSIFNRFDCFV>V<CSGILEILLVESGAMTPLGISVLRCIRLLR	534
SCN10A	FFTAEMVFKIIAFDPYYYFQKKWNIFDCII>V<TVSLLELGVAKKG-----SLSVLRSFRLLR	762
SCN11A	IFIAEMCLKIIALDPYHYFRRGWNIFDSIV>A<LLSFADVMNCVLQKR---SWPFLRSFRVLR	676
SCN1A	IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<TLSLVELGLANVE-----GLSVLRSFRLLR	865
SCN2A	IFTAEMFLKIIAMDPYYYFQEGWNIFDGFI>V<SLSLMELGLANVE-----GLSVLRSFRLLR	856
SCN3A	IFTAEMVLKIIAMDPYYYFQEGWNIFDGII>V<SLSLMELGLSNVE-----GLSVLRSFRLLR	857
SCN4A	IFTAEMVLKLIAMDPYEYFQQGWNIFDSII>V<TLSLVELGLANVQ-----GLSVLRSFRLLR	675
SCN5A	IFTAEMTFKIIALDPYYYFQQGWNIFDSII>V<ILSLMELGLSRMS-----NLSVLRSFRLLR	814
SCN7A	IFTAEMIFKIIAMHPYGYFQVGWNIFDSMI>V<FHGLIELCLANVA-----GMALLRLFRMLR	602
SCN8A	IFTAEMFLKLIAMDPYYYFQEGWNIFDGFI>V<SLSLMELSLADVE-----GLSVLRSFRLLR	850
SCN9A	IFAAEMVLKLIAMDPYEYFQVGWNIFDSLI>V<TLSLVELFLADVE-----GLSVLRSFRLLR	830
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V596M	c.1786G>A	Putative Benign			SIFT: Polyphen: