Paralogue Annotation for CACNA1C residue 360

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 360
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 360

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AM369KBrugada syndromeMedium9 12106943, 24136861
SCN1AM379RDravet syndromeMedium9 22612257
SCN1AM379KDravet syndromeMedium9 26096185

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.



CACNA1CTVCKPGWDGPKHGITNFDNFAFAMLTVFQC>I<TMEGWTDVLYWVNDAVGRDWPWIYFVTLII390
CACNA1ATKCQPYWEGPNNGITQFDNILFAVLTVFQC>I<TMEGWTDLLYNSNDASGNTWNWLYFIPLII345
CACNA1BTECREYWPGPNFGITNFDNILFAILTVFQC>I<TMEGWTDILYNTNDAAGNTWNWLYFIPLII341
CACNA1DTECRSGWVGPNGGITNFDNFAFAMLTVFQC>I<TMEGWTDVLYWVNDAIGWEWPWVYFVSLII391
CACNA1EYEC-KDWIGPNDGITQFDNILFAVLTVFQC>I<TMEGWTTVLYNTNDALGATWNWLYFIPLII336
CACNA1FTECRGRWPGPNGGITNFDNFFFAMLTVFQC>V<TMEGWTDVLYWMQDAMGYELPWVYFVSLVI357
CACNA1GTNCSAGEHNPFKGAINFDNIGYAWIAIFQV>I<TLEGWVDIMYFVMDAHSF-YNFIYFILLII380
CACNA1HNVCRSGDSNPHNGAINFDNIGYAWIAIFQV>I<TLEGWVDIMYYVMDAHSF-YNFIYFILLII404
CACNA1INVCRTGSANPHKGAINFDNIGYAWIVIFQV>I<TLEGWVEIMYYVMDAHSF-YNFIYFILLII383
CACNA1SSECRGGWPGPNHGITHFDNFGFSMLTVYQC>I<TMEGWTDVLYWVNDAIGNEWPWIYFVTLIL319
SCN10AYICLKTSDNPDFNYTSFDSFAWAFLSLFRL>M<TQDSWERLYQQTLRTSGKIY-MIFFVLVIF382
SCN11AYECKHTKINPDYNYTNFDNFGWSFLAMFRL>M<TQDSWEKLYQQTLRTTGLYS-VFFFIVVIF385
SCN1AYMCVKAGRNPNYGYTSFDTFSWAFLSLFRL>M<TQDFWENLYQLTLRAAGKTY-MIFFVLVIF408
SCN2AYICVKAGRNPNYGYTSFDTFSWAFLSLFRL>M<TQDFWENLYQLTLRAAGKTY-MIFFVLVIF410
SCN3AYICVKAGRNPNYGYTSFDTFSWAFLSLFRL>M<TQDYWENLYQLTLRAAGKTY-MIFFVLVIF409
SCN4AYECIKTGRNPNYGYTSYDTFSWAFLALFRL>M<TQDYWENLFQLTLRAAGKTY-MIFFVVIIF432
SCN5AYRCLKAGENPDHGYTSFDSFAWAFLALFRL>M<TQDCWERLYQQTLRSAGKIY-MIFFMLVIF398
SCN7AYVCVKAGINPDQGFTNFDSFGWALFALFRL>M<AQDYPEVLYHQILYASGKVY-MIFFVVVSF379
SCN8AYQCMKAGRNPNYGYTSFDTFSWAFLALFRL>M<TQDYWENLYQLTLRAAGKTY-MIFFVLVIF396
SCN9AYTCVKIGRNPDYGYTSFDTFSWAFLALFRL>M<TQDYWENLYQQTLRAAGKTY-MIFFVVVIF387
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 360 for CACNA1C.