Paralogue Annotation for CACNA1C residue 751

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 751
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 751

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FI756TRetinal disorder, X-linkedHigh9 15807819, 15897456
CACNA1AI712VEpisodic seizures, ataxia, and migraine with motorHigh9 18940563
SCN1AL990FDravet syndromeMedium9 18076640
CACNA1DI770MPrimary aldosteronismHigh9 23913001

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.



CACNA1CGPSFPGMLVCIYFIILFICGNYILLNVFLA>I<AVDNLADAESLTSAQKEEEEE-KERKK-LA779
CACNA1AGV-QGGMVFSIYFIVLTLFGNYTLLNVFLA>I<AVDNLANAQELTKDEQEEEEA-ANQKL-AL740
CACNA1BGV-SKGMFSSFYFIVLTLFGNYTLLNVFLA>I<AVDNLANAQELTKDEEEMEEA-ANQKL-AL736
CACNA1DGPSSSGMIVCIYFIILFICGNYILLNVFLA>I<AVDNLADAESLNTAQKEEAEE-KERKK-IA798
CACNA1EGV-SSGMWSAIYFIVLTLFGNYTLLNVFLA>I<AVDNLANAQELTKDEQEEEEA-FNQKH-AL729
CACNA1FGPFFPGMLVCIYFIILFICGNYILLNVFLA>I<AVDNLASGDA-GTAKDKGGEK-SNEKDLPQ784
CACNA1G-S----SWAALYFIALMTFGNYVLFNLLVA>I<LVEGFQ-AEEISKREDASGQL-SCIQL-PV989
CACNA1H-S----SWAALYFVALMTFGNYVLFNLLVA>I<LVEGFQ-AEGDANRSDTDEDKTSVHFEEDF1042
CACNA1I-S----PWASLYFVALMTFGNYVLFNLLVA>I<LVEGFQAEGDAN-RSYSDEDQSSSNIE-EF888
CACNA1SGPSYPGMLVCIYFIILFVCGNYILLNVFLA>I<AVDNLAEAESLTSAQKAKAEE-KKRRK-MS687
SCN10A---GQKSICLILFLTVMVLGNLVVLNLFIA>L<LLNSFS-ADNLTAP-EDDGEV-NNLQV-AL914
SCN11A---ASSSLCVIVFILITVIGKLVVLNLFIA>L<LLNSFS-NEERNGNLEGEARK-TKVQL-AL836
SCN1A---AGQAMCLTVFMMVMVIGNLVVLNLFLA>L<LLSSFS-ADNLAAT-DDDNEM-NNLQI-AV1016
SCN2A---AGQTMCLTVFMMVMVIGNLVVLNLFLA>L<LLSSFS-SDNLAAT-DDDNEM-NNLQI-AV1007
SCN3A---AGQTMCLIVFMLVMVIGNLVVLNLFLA>L<LLSSFS-SDNLAAT-DDDNEM-NNLQI-AV1008
SCN4A---AGQAMCLTVFLMVMVIGNLVVLNLFLA>L<LLSSFS-ADSLAAS-DEDGEM-NNLQI-AI826
SCN5A---SGQSLCLLVFLLVMVIGNLVVLNLFLA>L<LLSSFS-ADNLTAP-DEDREM-NNLQL-AL963
SCN7A---AGQSWCIPFYLMVILIGNLLVLYLFLA>-<LVSSFS-SCKDVTA-EENNEA-KNLQL-AV752
SCN8A---AGQAMCLIVFMMVMVIGNLVVLNLFLA>L<LLSSFS-ADNLAAT-DDDGEM-NNLQI-SV1001
SCN9A---AGQAMCLIVYMMVMVIGNLVVLNLFLA>L<LLSSFS-SDNLTAI-EEDPDA-NNLQI-AV981
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Ile751Valc.2251A>G UnknownSIFT:
Polyphen: