Paralogue Annotation for CACNA1C residue 629

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 629
Reference Amino Acid: K - Lysine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 629

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	K817E	Brugada syndrome	High	9	26776555

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	GILETILVETKIMSPLGISVLRCVRLLRIF>K<ITRYWNSLSNLVASLLNSVRSIASLLLLLF	659
CACNA1A	SIFEVIWAVIKPGTSFGISVLRALRLLRIF>K<VTKYWASLRNLVVSLLNSMKSIISLLFLLF	622
CACNA1B	SVFEVVWAAIKPGSSFGISVLRALRLLRIF>K<VTKYWSSLRNLVVSLLNSMKSIISLLFLLF	618
CACNA1D	GITETILVELEIMSPLGISVFRCVRLLRIF>K<VTRHWTSLSNLVASLLNSMKSIASLLLLLF	678
CACNA1E	SIFEVVWAIFRPGTSFGISVLRALRLLRIF>K<ITKYWASLRNLVVSLMSSMKSIISLLFLLF	611
CACNA1F	GILETTLVEVGAMQPLGISVLRCVRLLRIF>K<VTRHWASLSNLVASLLNSMKSIASLLLLLF	664
CACNA1G	SVWEIVGQQGG-----GLSVLRTFRLMRVL>K<LVRFLPALQRQLVVLMKTMDNVATFCMLLM	873
CACNA1H	SVWEIVGQADG-----GLSVLRTFRLLRVL>K<LVRFLPALRRQLVVLVKTMDNVATFCTLLM	923
CACNA1I	SIWEIVGQADG-----GLSVLRTFRLLRVL>K<LVRFMPALRRQLVVLMKTMDNVATFCMLLM	770
CACNA1S	GILEILLVESGAMTPLGISVLRCIRLLRIF>K<ITKYWTSLSNLVASLLNSIRSIASLLLLLF	567
SCN10A	SLLELGVAKKG-----SLSVLRSFRLLRVF>K<LAKSWPTLNTLIKIIGNSVGALGNLTIILA	795
SCN11A	SFADVMNCVLQKR---SWPFLRSFRVLRVF>K<LAKSWPTLNTLIKIIGNSVGALGSLTVVLV	709
SCN1A	SLVELGLANVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA	898
SCN2A	SLMELGLANVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA	889
SCN3A	SLMELGLSNVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA	890
SCN4A	SLVELGLANVQ-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA	708
SCN5A	SLMELGLSRMS-----NLSVLRSFRLLRVF>K<LAKSWPTLNTLIKIIGNSVGALGNLTLVLA	847
SCN7A	GLIELCLANVA-----GMALLRLFRMLRIF>K<LGKYWPTFQILMWSLSNSWVALKDLVLLLF	635
SCN8A	SLMELSLADVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA	883
SCN9A	SLVELFLADVE-----GLSVLRSFRLLRVF>K<LAKSWPTLNMLIKIIGNSVGALGNLTLVLA	863
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K629R	c.1886A>G	Putative Benign			SIFT: Polyphen: