Paralogue Annotation for CACNA1C residue 741

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 741
Reference Amino Acid: N - Asparagine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 741

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AN927SBrugada syndromeHigh9 16764707
CACNA1FN746TNight blindness, congenital stationary 2High9 25472526

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.



CACNA1CVMYDGIMAYGGPSFPGMLVCIYFIILFICG>N<YILLNVFLAIAVDNLADAESLTSAQKEEEE771
CACNA1AVMYDGIKSQGGV-QGGMVFSIYFIVLTLFG>N<YTLLNVFLAIAVDNLANAQELTKDEQEEEE732
CACNA1BVMYHGIESQGGV-SKGMFSSFYFIVLTLFG>N<YTLLNVFLAIAVDNLANAQELTKDEEEMEE728
CACNA1DVMYDGIMAYGGPSSSGMIVCIYFIILFICG>N<YILLNVFLAIAVDNLADAESLNTAQKEEAE790
CACNA1EVMYNGIRSQGGV-SSGMWSAIYFIVLTLFG>N<YTLLNVFLAIAVDNLANAQELTKDEQEEEE721
CACNA1FVMYDGIMAYGGPFFPGMLVCIYFIILFICG>N<YILLNVFLAIAVDNLASGDA-GTAKDKGGE775
CACNA1GVLYNGMAS-T-S----SWAALYFIALMTFG>N<YVLFNLLVAILVEGFQ-AEEISKREDASGQ981
CACNA1HVLYNGMAS-T-S----SWAALYFVALMTFG>N<YVLFNLLVAILVEGFQ-AEGDANRSDTDED1032
CACNA1IVLYNGMAS-T-S----PWASLYFVALMTFG>N<YVLFNLLVAILVEGFQAEGDAN-RSYSDED879
CACNA1SMMYNGIMAYGGPSYPGMLVCIYFIILFVCG>N<YILLNVFLAIAVDNLAEAESLTSAQKAKAE679
SCN10ANMWACMEV-----GQKSICLILFLTVMVLG>N<LVVLNLFIALLLNSFS-ADNLTAP-EDDGE906
SCN11ANMWECMQEAN---ASSSLCVIVFILITVIG>K<LVVLNLFIALLLNSFS-NEERNGNLEGEAR828
SCN1ATMWDCMEV-----AGQAMCLTVFMMVMVIG>N<LVVLNLFLALLLSSFS-ADNLAAT-DDDNE1008
SCN2ATMWDCMEV-----AGQTMCLTVFMMVMVIG>N<LVVLNLFLALLLSSFS-SDNLAAT-DDDNE999
SCN3ATMWDCMEV-----AGQTMCLIVFMLVMVIG>N<LVVLNLFLALLLSSFS-SDNLAAT-DDDNE1000
SCN4ATMWDCMEV-----AGQAMCLTVFLMVMVIG>N<LVVLNLFLALLLSSFS-ADSLAAS-DEDGE818
SCN5ATMWDCMEV-----SGQSLCLLVFLLVMVIG>N<LVVLNLFLALLLSSFS-ADNLTAP-DEDRE955
SCN7ATLWDCMEV-----AGQSWCIPFYLMVILIG>N<LLVLYLFLA-LVSSFS-SCKDVTA-EENNE744
SCN8ATMWDCMEV-----AGQAMCLIVFMMVMVIG>N<LVVLNLFLALLLSSFS-ADNLAAT-DDDGE993
SCN9ATMWDCMEV-----AGQAMCLIVYMMVMVIG>N<LVVLNLFLALLLSSFS-SDNLTAI-EEDPD973
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 741 for CACNA1C.