Paralogue Annotation for CACNA1C residue 346

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 346
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 346

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AF301LCerebellar ataxiaHigh9 25133958

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.



CACNA1CLETGHGRQ-CQN-GTVCKPGWDGPKHGITN>F<DNFAFAMLTVFQCITMEGWTDVLYWVNDAV376
CACNA1ATEEPA-RT-C-PNGTKCQPYWEGPNNGITQ>F<DNILFAVLTVFQCITMEGWTDLLYNSNDAS331
CACNA1BKEAPA-RL-C-EGDTECREYWPGPNFGITN>F<DNILFAILTVFQCITMEGWTDILYNTNDAA327
CACNA1DFSGNGR-Q-CTANGTECRSGWVGPNGGITN>F<DNFAFAMLTVFQCITMEGWTDVLYWVNDAI377
CACNA1EVQG------C-PAGYEC-KDWIGPNDGITQ>F<DNILFAVLTVFQCITMEGWTTVLYNTNDAL322
CACNA1FSSGSGR-A-CTLNQTECRGRWPGPNGGITN>F<DNFFFAMLTVFQCVTMEGWTDVLYWMQDAM343
CACNA1GSSNTTC-VNWNQYYTNCSAGEHNPFKGAIN>F<DNIGYAWIAIFQVITLEGWVDIMYFVMDAH367
CACNA1HAARNAC-INWNQYYNVCRSGDSNPHNGAIN>F<DNIGYAWIAIFQVITLEGWVDIMYYVMDAH391
CACNA1INASGLC-VNWNRYYNVCRTGSANPHKGAIN>F<DNIGYAWIVIFQVITLEGWVEIMYYVMDAH370
CACNA1SRTGSGR-R-CTINGSECRGGWPGPNHGITH>F<DNFGFSMLTVYQCITMEGWTDVLYWVNDAI305
SCN10ANGSDSG-H-C-PDGYICLKTSDNPDFNYTS>F<DSFAWAFLSLFRLMTQDSWERLYQQTLRTS369
SCN11AIWMGNS-A-C-SIQYECKHTKINPDYNYTN>F<DNFGWSFLAMFRLMTQDSWEKLYQQTLRTT372
SCN1ANSSDAG-Q-C-PEGYMCVKAGRNPNYGYTS>F<DTFSWAFLSLFRLMTQDFWENLYQLTLRAA395
SCN2ANSSDAG-Q-C-PEGYICVKAGRNPNYGYTS>F<DTFSWAFLSLFRLMTQDFWENLYQLTLRAA397
SCN3ANGSDAG-Q-C-PEGYICVKAGRNPNYGYTS>F<DTFSWAFLSLFRLMTQDYWENLYQLTLRAA396
SCN4ANSSDAG-H-C-PEGYECIKTGRNPNYGYTS>Y<DTFSWAFLALFRLMTQDYWENLFQLTLRAA419
SCN5ANSSDAG-T-C-PEGYRCLKAGENPDHGYTS>F<DSFAWAFLALFRLMTQDCWERLYQQTLRSA385
SCN7ANRTDAG-Q-C-PEGYVCVKAGINPDQGFTN>F<DSFGWALFALFRLMAQDYPEVLYHQILYAS366
SCN8ANSSDAG-Q-C-PEGYQCMKAGRNPNYGYTS>F<DTFSWAFLALFRLMTQDYWENLYQLTLRAA383
SCN9AFSTDSG-Q-C-PEGYTCVKIGRNPDYGYTS>F<DTFSWAFLALFRLMTQDYWENLYQQTLRAA374
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 346 for CACNA1C.