Paralogue Annotation for CACNA1C residue 749

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 749
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 749

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AL935PBrugada syndromeHigh9 20129283

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.



CACNA1CYGGPSFPGMLVCIYFIILFICGNYILLNVF>L<AIAVDNLADAESLTSAQKEEEEE-KERKK-777
CACNA1AQGGV-QGGMVFSIYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEQEEEEA-ANQKL-738
CACNA1BQGGV-SKGMFSSFYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEEEMEEA-ANQKL-734
CACNA1DYGGPSSSGMIVCIYFIILFICGNYILLNVF>L<AIAVDNLADAESLNTAQKEEAEE-KERKK-796
CACNA1EQGGV-SSGMWSAIYFIVLTLFGNYTLLNVF>L<AIAVDNLANAQELTKDEQEEEEA-FNQKH-727
CACNA1FYGGPFFPGMLVCIYFIILFICGNYILLNVF>L<AIAVDNLASGDA-GTAKDKGGEK-SNEKDL782
CACNA1G-T-S----SWAALYFIALMTFGNYVLFNLL>V<AILVEGFQ-AEEISKREDASGQL-SCIQL-987
CACNA1H-T-S----SWAALYFVALMTFGNYVLFNLL>V<AILVEGFQ-AEGDANRSDTDEDKTSVHFEE1040
CACNA1I-T-S----PWASLYFVALMTFGNYVLFNLL>V<AILVEGFQAEGDAN-RSYSDEDQSSSNIE-886
CACNA1SYGGPSYPGMLVCIYFIILFVCGNYILLNVF>L<AIAVDNLAEAESLTSAQKAKAEE-KKRRK-685
SCN10A-----GQKSICLILFLTVMVLGNLVVLNLF>I<ALLLNSFS-ADNLTAP-EDDGEV-NNLQV-912
SCN11AAN---ASSSLCVIVFILITVIGKLVVLNLF>I<ALLLNSFS-NEERNGNLEGEARK-TKVQL-834
SCN1A-----AGQAMCLTVFMMVMVIGNLVVLNLF>L<ALLLSSFS-ADNLAAT-DDDNEM-NNLQI-1014
SCN2A-----AGQTMCLTVFMMVMVIGNLVVLNLF>L<ALLLSSFS-SDNLAAT-DDDNEM-NNLQI-1005
SCN3A-----AGQTMCLIVFMLVMVIGNLVVLNLF>L<ALLLSSFS-SDNLAAT-DDDNEM-NNLQI-1006
SCN4A-----AGQAMCLTVFLMVMVIGNLVVLNLF>L<ALLLSSFS-ADSLAAS-DEDGEM-NNLQI-824
SCN5A-----SGQSLCLLVFLLVMVIGNLVVLNLF>L<ALLLSSFS-ADNLTAP-DEDREM-NNLQL-961
SCN7A-----AGQSWCIPFYLMVILIGNLLVLYLF>L<A-LVSSFS-SCKDVTA-EENNEA-KNLQL-750
SCN8A-----AGQAMCLIVFMMVMVIGNLVVLNLF>L<ALLLSSFS-ADNLAAT-DDDGEM-NNLQI-999
SCN9A-----AGQAMCLIVYMMVMVIGNLVVLNLF>L<ALLLSSFS-SDNLTAI-EEDPDA-NNLQI-979
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 749 for CACNA1C.