Paralogue Annotation for CACNA1C residue 344

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 344
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 344

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	T353I	Brugada syndrome	High	9	17198989, 25261036
SCN1A	T363R	Dravet syndrome C ?	High	9	21248271, 24679980
SCN1A	T363P	Myoclonic epilepsy of infancy	High	9	23195492

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	CALETGHGRQ-CQN-GTVCKPGWDGPKHGI>T<NFDNFAFAMLTVFQCITMEGWTDVLYWVND	374
CACNA1A	CGTEEPA-RT-C-PNGTKCQPYWEGPNNGI>T<QFDNILFAVLTVFQCITMEGWTDLLYNSND	329
CACNA1B	CGKEAPA-RL-C-EGDTECREYWPGPNFGI>T<NFDNILFAILTVFQCITMEGWTDILYNTND	325
CACNA1D	CAFSGNGR-Q-CTANGTECRSGWVGPNGGI>T<NFDNFAFAMLTVFQCITMEGWTDVLYWVND	375
CACNA1E	CGVQG------C-PAGYEC-KDWIGPNDGI>T<QFDNILFAVLTVFQCITMEGWTTVLYNTND	320
CACNA1F	CASSGSGR-A-CTLNQTECRGRWPGPNGGI>T<NFDNFFFAMLTVFQCVTMEGWTDVLYWMQD	341
CACNA1G	--SSNTTC-VNWNQYYTNCSAGEHNPFKGA>I<NFDNIGYAWIAIFQVITLEGWVDIMYFVMD	365
CACNA1H	VGAARNAC-INWNQYYNVCRSGDSNPHNGA>I<NFDNIGYAWIAIFQVITLEGWVDIMYYVMD	389
CACNA1I	DLNASGLC-VNWNRYYNVCRTGSANPHKGA>I<NFDNIGYAWIVIFQVITLEGWVEIMYYVMD	368
CACNA1S	CARTGSGR-R-CTINGSECRGGWPGPNHGI>T<HFDNFGFSMLTVYQCITMEGWTDVLYWVND	303
SCN10A	CGNGSDSG-H-C-PDGYICLKTSDNPDFNY>T<SFDSFAWAFLSLFRLMTQDSWERLYQQTLR	367
SCN11A	CGIWMGNS-A-C-SIQYECKHTKINPDYNY>T<NFDNFGWSFLAMFRLMTQDSWEKLYQQTLR	370
SCN1A	CGNSSDAG-Q-C-PEGYMCVKAGRNPNYGY>T<SFDTFSWAFLSLFRLMTQDFWENLYQLTLR	393
SCN2A	CGNSSDAG-Q-C-PEGYICVKAGRNPNYGY>T<SFDTFSWAFLSLFRLMTQDFWENLYQLTLR	395
SCN3A	CGNGSDAG-Q-C-PEGYICVKAGRNPNYGY>T<SFDTFSWAFLSLFRLMTQDYWENLYQLTLR	394
SCN4A	CGNSSDAG-H-C-PEGYECIKTGRNPNYGY>T<SYDTFSWAFLALFRLMTQDYWENLFQLTLR	417
SCN5A	CGNSSDAG-T-C-PEGYRCLKAGENPDHGY>T<SFDSFAWAFLALFRLMTQDCWERLYQQTLR	383
SCN7A	CGNRTDAG-Q-C-PEGYVCVKAGINPDQGF>T<NFDSFGWALFALFRLMAQDYPEVLYHQILY	364
SCN8A	CGNSSDAG-Q-C-PEGYQCMKAGRNPNYGY>T<SFDTFSWAFLALFRLMTQDYWENLYQLTLR	381
SCN9A	CGFSTDSG-Q-C-PEGYTCVKIGRNPDYGY>T<SFDTFSWAFLALFRLMTQDYWENLYQQTLR	372
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T344I	c.1031C>T	Putative Benign		rs200935321	SIFT: deleterious Polyphen: possibly damaging