Paralogue Annotation for CACNA1C residue 359

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 359
Reference Amino Acid: C - Cysteine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 359

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL378QDravet syndromeMedium9 18930999

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.



CACNA1CGTVCKPGWDGPKHGITNFDNFAFAMLTVFQ>C<ITMEGWTDVLYWVNDAVGRDWPWIYFVTLI389
CACNA1AGTKCQPYWEGPNNGITQFDNILFAVLTVFQ>C<ITMEGWTDLLYNSNDASGNTWNWLYFIPLI344
CACNA1BDTECREYWPGPNFGITNFDNILFAILTVFQ>C<ITMEGWTDILYNTNDAAGNTWNWLYFIPLI340
CACNA1DGTECRSGWVGPNGGITNFDNFAFAMLTVFQ>C<ITMEGWTDVLYWVNDAIGWEWPWVYFVSLI390
CACNA1EGYEC-KDWIGPNDGITQFDNILFAVLTVFQ>C<ITMEGWTTVLYNTNDALGATWNWLYFIPLI335
CACNA1FQTECRGRWPGPNGGITNFDNFFFAMLTVFQ>C<VTMEGWTDVLYWMQDAMGYELPWVYFVSLV356
CACNA1GYTNCSAGEHNPFKGAINFDNIGYAWIAIFQ>V<ITLEGWVDIMYFVMDAHSF-YNFIYFILLI379
CACNA1HYNVCRSGDSNPHNGAINFDNIGYAWIAIFQ>V<ITLEGWVDIMYYVMDAHSF-YNFIYFILLI403
CACNA1IYNVCRTGSANPHKGAINFDNIGYAWIVIFQ>V<ITLEGWVEIMYYVMDAHSF-YNFIYFILLI382
CACNA1SGSECRGGWPGPNHGITHFDNFGFSMLTVYQ>C<ITMEGWTDVLYWVNDAIGNEWPWIYFVTLI318
SCN10AGYICLKTSDNPDFNYTSFDSFAWAFLSLFR>L<MTQDSWERLYQQTLRTSGKIY-MIFFVLVI381
SCN11AQYECKHTKINPDYNYTNFDNFGWSFLAMFR>L<MTQDSWEKLYQQTLRTTGLYS-VFFFIVVI384
SCN1AGYMCVKAGRNPNYGYTSFDTFSWAFLSLFR>L<MTQDFWENLYQLTLRAAGKTY-MIFFVLVI407
SCN2AGYICVKAGRNPNYGYTSFDTFSWAFLSLFR>L<MTQDFWENLYQLTLRAAGKTY-MIFFVLVI409
SCN3AGYICVKAGRNPNYGYTSFDTFSWAFLSLFR>L<MTQDYWENLYQLTLRAAGKTY-MIFFVLVI408
SCN4AGYECIKTGRNPNYGYTSYDTFSWAFLALFR>L<MTQDYWENLFQLTLRAAGKTY-MIFFVVII431
SCN5AGYRCLKAGENPDHGYTSFDSFAWAFLALFR>L<MTQDCWERLYQQTLRSAGKIY-MIFFMLVI397
SCN7AGYVCVKAGINPDQGFTNFDSFGWALFALFR>L<MAQDYPEVLYHQILYASGKVY-MIFFVVVS378
SCN8AGYQCMKAGRNPNYGYTSFDTFSWAFLALFR>L<MTQDYWENLYQLTLRAAGKTY-MIFFVLVI395
SCN9AGYTCVKIGRNPDYGYTSFDTFSWAFLALFR>L<MTQDYWENLYQQTLRAAGKTY-MIFFVVVI386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 359 for CACNA1C.