Paralogue Annotation for CACNA1C residue 646

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 646
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 646

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	N834D	Long QT syndrome	High	9	23631430
SCN2A	N876T	Ohtahara syndrome	High	9	23935176

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	ISVLRCVRLLRIFKITRYWNSLSNLVASLL>N<SVRSIASLLLLLFLFIIIFSLLGMQLFGGK	676
CACNA1A	ISVLRALRLLRIFKVTKYWASLRNLVVSLL>N<SMKSIISLLFLLFLFIVVFALLGMQLFGGQ	639
CACNA1B	ISVLRALRLLRIFKVTKYWSSLRNLVVSLL>N<SMKSIISLLFLLFLFIVVFALLGMQLFGGQ	635
CACNA1D	ISVFRCVRLLRIFKVTRHWTSLSNLVASLL>N<SMKSIASLLLLLFLFIIIFSLLGMQLFGGK	695
CACNA1E	ISVLRALRLLRIFKITKYWASLRNLVVSLM>S<SMKSIISLLFLLFLFIVVFALLGMQLFGGR	628
CACNA1F	ISVLRCVRLLRIFKVTRHWASLSNLVASLL>N<SMKSIASLLLLLFLFIIIFSLLGMQLFGGK	681
CACNA1G	LSVLRTFRLMRVLKLVRFLPALQRQLVVLM>K<TMDNVATFCMLLMLFIFIFSILGMHLFGCK	890
CACNA1H	LSVLRTFRLLRVLKLVRFLPALRRQLVVLV>K<TMDNVATFCTLLMLFIFIFSILGMHLFGCK	940
CACNA1I	LSVLRTFRLLRVLKLVRFMPALRRQLVVLM>K<TMDNVATFCMLLMLFIFIFSILGMHIFGCK	787
CACNA1S	ISVLRCIRLLRIFKITKYWTSLSNLVASLL>N<SIRSIASLLLLLFLFIVIFALLGMQLFGGR	584
SCN10A	LSVLRSFRLLRVFKLAKSWPTLNTLIKIIG>N<SVGALGNLTIILAIIVFVFALVGKQLLGEN	812
SCN11A	WPFLRSFRVLRVFKLAKSWPTLNTLIKIIG>N<SVGALGSLTVVLVIVIFIFSVVGMQLFGRS	726
SCN1A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	915
SCN2A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	906
SCN3A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	907
SCN4A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	725
SCN5A	LSVLRSFRLLRVFKLAKSWPTLNTLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKN	864
SCN7A	MALLRLFRMLRIFKLGKYWPTFQILMWSLS>N<SWVALKDLVLLLFTFIFFSAAFGMKLFGKN	652
SCN8A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	900
SCN9A	LSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS	880
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 646 for CACNA1C.