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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AT353IBrugada syndromeHigh9 17198989, 25261036
SCN1AT363RDravet syndrome C ?High9 21248271, 24679980
SCN1AT363PMyoclonic epilepsy of infancyHigh9 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.



CACNA1CCALETGHGRQ-CQN-GTVCKPGWDGPKHGI>T<NFDNFAFAMLTVFQCITMEGWTDVLYWVND374
CACNA1ACGTEEPA-RT-C-PNGTKCQPYWEGPNNGI>T<QFDNILFAVLTVFQCITMEGWTDLLYNSND329
CACNA1BCGKEAPA-RL-C-EGDTECREYWPGPNFGI>T<NFDNILFAILTVFQCITMEGWTDILYNTND325
CACNA1DCAFSGNGR-Q-CTANGTECRSGWVGPNGGI>T<NFDNFAFAMLTVFQCITMEGWTDVLYWVND375
CACNA1ECGVQG------C-PAGYEC-KDWIGPNDGI>T<QFDNILFAVLTVFQCITMEGWTTVLYNTND320
CACNA1FCASSGSGR-A-CTLNQTECRGRWPGPNGGI>T<NFDNFFFAMLTVFQCVTMEGWTDVLYWMQD341
CACNA1G--SSNTTC-VNWNQYYTNCSAGEHNPFKGA>I<NFDNIGYAWIAIFQVITLEGWVDIMYFVMD365
CACNA1HVGAARNAC-INWNQYYNVCRSGDSNPHNGA>I<NFDNIGYAWIAIFQVITLEGWVDIMYYVMD389
CACNA1IDLNASGLC-VNWNRYYNVCRTGSANPHKGA>I<NFDNIGYAWIVIFQVITLEGWVEIMYYVMD368
CACNA1SCARTGSGR-R-CTINGSECRGGWPGPNHGI>T<HFDNFGFSMLTVYQCITMEGWTDVLYWVND303
SCN10ACGNGSDSG-H-C-PDGYICLKTSDNPDFNY>T<SFDSFAWAFLSLFRLMTQDSWERLYQQTLR367
SCN11ACGIWMGNS-A-C-SIQYECKHTKINPDYNY>T<NFDNFGWSFLAMFRLMTQDSWEKLYQQTLR370
SCN1ACGNSSDAG-Q-C-PEGYMCVKAGRNPNYGY>T<SFDTFSWAFLSLFRLMTQDFWENLYQLTLR393
SCN2ACGNSSDAG-Q-C-PEGYICVKAGRNPNYGY>T<SFDTFSWAFLSLFRLMTQDFWENLYQLTLR395
SCN3ACGNGSDAG-Q-C-PEGYICVKAGRNPNYGY>T<SFDTFSWAFLSLFRLMTQDYWENLYQLTLR394
SCN4ACGNSSDAG-H-C-PEGYECIKTGRNPNYGY>T<SYDTFSWAFLALFRLMTQDYWENLFQLTLR417
SCN5ACGNSSDAG-T-C-PEGYRCLKAGENPDHGY>T<SFDSFAWAFLALFRLMTQDCWERLYQQTLR383
SCN7ACGNRTDAG-Q-C-PEGYVCVKAGINPDQGF>T<NFDSFGWALFALFRLMAQDYPEVLYHQILY364
SCN8ACGNSSDAG-Q-C-PEGYQCMKAGRNPNYGY>T<SFDTFSWAFLALFRLMTQDYWENLYQLTLR381
SCN9ACGFSTDSG-Q-C-PEGYTCVKIGRNPDYGY>T<SFDTFSWAFLALFRLMTQDYWENLYQQTLR372
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T344Ic.1031C>T Putative BenignSIFT: deleterious
Polyphen: possibly damaging