Paralogue Annotation for CACNA1C residue 720

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 720
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 720

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS910LBrugada syndromeMedium5 11901046

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.



CACNA1CDNFPQSLLTVFQILTGEDWNSVMYDGIMAY>G<GPSFPGMLVCIYFIILFICGNYILLNVFLA750
CACNA1ADTFPAAIMTVFQILTGEDWNEVMYDGIKSQ>G<GV-QGGMVFSIYFIVLTLFGNYTLLNVFLA711
CACNA1BDTFPAAILTVFQILTGEDWNAVMYHGIESQ>G<GV-SKGMFSSFYFIVLTLFGNYTLLNVFLA707
CACNA1DDNFPQALLTVFQILTGEDWNAVMYDGIMAY>G<GPSSSGMIVCIYFIILFICGNYILLNVFLA769
CACNA1EDTFPAAIMTVFQILTGEDWNEVMYNGIRSQ>G<GV-SSGMWSAIYFIVLTLFGNYTLLNVFLA700
CACNA1FDTFPQALLTVFQILTGEDWNVVMYDGIMAY>G<GPFFPGMLVCIYFIILFICGNYILLNVFLA755
CACNA1GDSLLWAIVTVFQILTQEDWNKVLYNGMAS->T<-S----SWAALYFIALMTFGNYVLFNLLVA961
CACNA1HDSLLWAIVTVFQILTQEDWNVVLYNGMAS->T<-S----SWAALYFVALMTFGNYVLFNLLVA1012
CACNA1IDSLLWAIVTVFQILTQEDWNVVLYNGMAS->T<-S----PWASLYFVALMTFGNYVLFNLLVA859
CACNA1SDNFPQALISVFQVLTGEDWTSMMYNGIMAY>G<GPSYPGMLVCIYFIILFVCGNYILLNVFLA658
SCN10AHDFFHSFLIVFRILCGE-WIENMWACMEV->-<---GQKSICLILFLTVMVLGNLVVLNLFIA887
SCN11AGDFWHSFLVVFRILCGE-WIENMWECMQEA>N<---ASSSLCVIVFILITVIGKLVVLNLFIA808
SCN1ANDFFHSFLIVFRVLCGE-WIETMWDCMEV->-<---AGQAMCLTVFMMVMVIGNLVVLNLFLA989
SCN2AHDFFHSFLIVFRVLCGE-WIETMWDCMEV->-<---AGQTMCLTVFMMVMVIGNLVVLNLFLA980
SCN3ANDFFHSFLIVFRVLCGE-WIETMWDCMEV->-<---AGQTMCLIVFMLVMVIGNLVVLNLFLA981
SCN4AHDFFHSFLIVFRILCGE-WIETMWDCMEV->-<---AGQAMCLTVFLMVMVIGNLVVLNLFLA799
SCN5AMDFFHAFLIIFRILCGE-WIETMWDCMEV-><---SGQSLCLLVFLLVMVIGNLVVLNLFLA936
SCN7AHDFFHSFLNVFRILCGE-WVETLWDCMEV->-<---AGQSWCIPFYLMVILIGNLLVLYLFLA726
SCN8AHDFFHSFLIVFRVLCGE-WIETMWDCMEV->-<---AGQAMCLIVFMMVMVIGNLVVLNLFLA974
SCN9ANDFFHSFLIVFRVLCGE-WIETMWDCMEV->-<---AGQAMCLIVYMMVMVIGNLVVLNLFLA954
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 720 for CACNA1C.