Paralogue Annotation for CACNA1C residue 740

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 740
Reference Amino Acid: G - Glycine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 740

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG979RMyoclonic epilepsy of infancyHigh9 12566275, 16210358
SCN1AG979VDravet syndrome B ?High9 21248271
SCN1AG979EDravet syndromeHigh9 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.



CACNA1CSVMYDGIMAYGGPSFPGMLVCIYFIILFIC>G<NYILLNVFLAIAVDNLADAESLTSAQKEEE770
CACNA1AEVMYDGIKSQGGV-QGGMVFSIYFIVLTLF>G<NYTLLNVFLAIAVDNLANAQELTKDEQEEE731
CACNA1BAVMYHGIESQGGV-SKGMFSSFYFIVLTLF>G<NYTLLNVFLAIAVDNLANAQELTKDEEEME727
CACNA1DAVMYDGIMAYGGPSSSGMIVCIYFIILFIC>G<NYILLNVFLAIAVDNLADAESLNTAQKEEA789
CACNA1EEVMYNGIRSQGGV-SSGMWSAIYFIVLTLF>G<NYTLLNVFLAIAVDNLANAQELTKDEQEEE720
CACNA1FVVMYDGIMAYGGPFFPGMLVCIYFIILFIC>G<NYILLNVFLAIAVDNLASGDA-GTAKDKGG774
CACNA1GKVLYNGMAS-T-S----SWAALYFIALMTF>G<NYVLFNLLVAILVEGFQ-AEEISKREDASG980
CACNA1HVVLYNGMAS-T-S----SWAALYFVALMTF>G<NYVLFNLLVAILVEGFQ-AEGDANRSDTDE1031
CACNA1IVVLYNGMAS-T-S----PWASLYFVALMTF>G<NYVLFNLLVAILVEGFQAEGDAN-RSYSDE878
CACNA1SSMMYNGIMAYGGPSYPGMLVCIYFIILFVC>G<NYILLNVFLAIAVDNLAEAESLTSAQKAKA678
SCN10AENMWACMEV-----GQKSICLILFLTVMVL>G<NLVVLNLFIALLLNSFS-ADNLTAP-EDDG905
SCN11AENMWECMQEAN---ASSSLCVIVFILITVI>G<KLVVLNLFIALLLNSFS-NEERNGNLEGEA827
SCN1AETMWDCMEV-----AGQAMCLTVFMMVMVI>G<NLVVLNLFLALLLSSFS-ADNLAAT-DDDN1007
SCN2AETMWDCMEV-----AGQTMCLTVFMMVMVI>G<NLVVLNLFLALLLSSFS-SDNLAAT-DDDN998
SCN3AETMWDCMEV-----AGQTMCLIVFMLVMVI>G<NLVVLNLFLALLLSSFS-SDNLAAT-DDDN999
SCN4AETMWDCMEV-----AGQAMCLTVFLMVMVI>G<NLVVLNLFLALLLSSFS-ADSLAAS-DEDG817
SCN5AETMWDCMEV-----SGQSLCLLVFLLVMVI>G<NLVVLNLFLALLLSSFS-ADNLTAP-DEDR954
SCN7AETLWDCMEV-----AGQSWCIPFYLMVILI>G<NLLVLYLFLA-LVSSFS-SCKDVTA-EENN743
SCN8AETMWDCMEV-----AGQAMCLIVFMMVMVI>G<NLVVLNLFLALLLSSFS-ADNLAAT-DDDG992
SCN9AETMWDCMEV-----AGQAMCLIVYMMVMVI>G<NLVVLNLFLALLLSSFS-SDNLTAI-EEDP972
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 740 for CACNA1C.