Paralogue Annotation for CACNA1C residue 791

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 791
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 791

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AC982RSudden adult death syndromeLow3 16712702, 24055113, 25637381

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------------------------EKKQEL>V<E---K----P------A-------V-----796
CACNA1ANRN-NNTNKSRAAEPTVDQRLGQQ-RAED->-<FLRKQARYHDRARDPSGSAGLDARRPWA-G886
CACNA1BDGA-RGPVGGKARPEAAEAPEGVD-PP--->-<--RRHHRHRDKDKTPAAG---D----QDRA870
CACNA1D------------------------ENKKN->-<N---K----P------E-------V-----813
CACNA1EYRR-PRAIEGLAL-----GLALEKFEEER->-<ISRGGSLKGDGGDRSSAL---DNQRTP-LS875
CACNA1F------------------------V----->-<---------P------G-------V-----793
CACNA1GTS-SSGSAEPGA------------------>-<-------AHEMKSPPSARSSPH----S--P1096
CACNA1HRGSSSS-GDP-P------------------>-<-------LGDQKPPASLRSSPC----A--P1131
CACNA1IKSSVMS-LGR-M------------------>-<-------SYDQRSLSSSRSSYY----G--P977
CACNA1S------------------------EEKST->-<M---A----K------K-------L-----705
SCN10A-ARG--SSGGLQ------------------>-<-------A----------------------976
SCN11ARGSE--TQEELG------------------>-<-------I----------------------899
SCN1ADVNG--TTSGIG------------------>-<-------T----------------------1088
SCN2ADGNG--TTSGI------------------->-<------------------------------1078
SCN3ADGNG--TTSGVG------------------>-<-------T----------------------1076
SCN4AKDNH--ILNHMG------------------>-<------------------------------898
SCN5AFEEG--EQPGQG------------------><-------T----------------------1038
SCN7ADKEK--S-S--------------------->-<------------------------------812
SCN8ANGNG--TTSGI------------------->-<------------------------------1070
SCN9AEKD---KISGF------------------->-<------------------------------1051
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 791 for CACNA1C.