Paralogue Annotation for CACNA1C residue 347

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 347
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 347

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	D356N	Brugada syndrome	High	9	16325048, 22090166, 24136861
SCN1A	D366E	Myoclonic epilepsy of infancy	High	9	18413471
CACNA1A	D302N	Spinocerebellar ataxia 6	High	9	24486772

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	ETGHGRQ-CQN-GTVCKPGWDGPKHGITNF>D<NFAFAMLTVFQCITMEGWTDVLYWVNDAVG	377
CACNA1A	EEPA-RT-C-PNGTKCQPYWEGPNNGITQF>D<NILFAVLTVFQCITMEGWTDLLYNSNDASG	332
CACNA1B	EAPA-RL-C-EGDTECREYWPGPNFGITNF>D<NILFAILTVFQCITMEGWTDILYNTNDAAG	328
CACNA1D	SGNGR-Q-CTANGTECRSGWVGPNGGITNF>D<NFAFAMLTVFQCITMEGWTDVLYWVNDAIG	378
CACNA1E	QG------C-PAGYEC-KDWIGPNDGITQF>D<NILFAVLTVFQCITMEGWTTVLYNTNDALG	323
CACNA1F	SGSGR-A-CTLNQTECRGRWPGPNGGITNF>D<NFFFAMLTVFQCVTMEGWTDVLYWMQDAMG	344
CACNA1G	SNTTC-VNWNQYYTNCSAGEHNPFKGAINF>D<NIGYAWIAIFQVITLEGWVDIMYFVMDAHS	368
CACNA1H	ARNAC-INWNQYYNVCRSGDSNPHNGAINF>D<NIGYAWIAIFQVITLEGWVDIMYYVMDAHS	392
CACNA1I	ASGLC-VNWNRYYNVCRTGSANPHKGAINF>D<NIGYAWIVIFQVITLEGWVEIMYYVMDAHS	371
CACNA1S	TGSGR-R-CTINGSECRGGWPGPNHGITHF>D<NFGFSMLTVYQCITMEGWTDVLYWVNDAIG	306
SCN10A	GSDSG-H-C-PDGYICLKTSDNPDFNYTSF>D<SFAWAFLSLFRLMTQDSWERLYQQTLRTSG	370
SCN11A	WMGNS-A-C-SIQYECKHTKINPDYNYTNF>D<NFGWSFLAMFRLMTQDSWEKLYQQTLRTTG	373
SCN1A	SSDAG-Q-C-PEGYMCVKAGRNPNYGYTSF>D<TFSWAFLSLFRLMTQDFWENLYQLTLRAAG	396
SCN2A	SSDAG-Q-C-PEGYICVKAGRNPNYGYTSF>D<TFSWAFLSLFRLMTQDFWENLYQLTLRAAG	398
SCN3A	GSDAG-Q-C-PEGYICVKAGRNPNYGYTSF>D<TFSWAFLSLFRLMTQDYWENLYQLTLRAAG	397
SCN4A	SSDAG-H-C-PEGYECIKTGRNPNYGYTSY>D<TFSWAFLALFRLMTQDYWENLFQLTLRAAG	420
SCN5A	SSDAG-T-C-PEGYRCLKAGENPDHGYTSF>D<SFAWAFLALFRLMTQDCWERLYQQTLRSAG	386
SCN7A	RTDAG-Q-C-PEGYVCVKAGINPDQGFTNF>D<SFGWALFALFRLMAQDYPEVLYHQILYASG	367
SCN8A	SSDAG-Q-C-PEGYQCMKAGRNPNYGYTSF>D<TFSWAFLALFRLMTQDYWENLYQLTLRAAG	384
SCN9A	STDSG-Q-C-PEGYTCVKIGRNPDYGYTSF>D<TFSWAFLALFRLMTQDYWENLYQQTLRAAG	375
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 347 for CACNA1C.