Paralogue Annotation for CACNA1C residue 748

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 748
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 748

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FF753CNight blindness, congenital stationary, incompleteHigh9 12111638, 17949918
SCN1AF987LMyoclonic epilepsy of infancyHigh9 23195492
CACNA1EF698SEpileptic encephalopathy with infantile spasmsHigh9 26795593

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.



CACNA1CAYGGPSFPGMLVCIYFIILFICGNYILLNV>F<LAIAVDNLADAESLTSAQKEEEEE-KERKK777
CACNA1ASQGGV-QGGMVFSIYFIVLTLFGNYTLLNV>F<LAIAVDNLANAQELTKDEQEEEEA-ANQKL738
CACNA1BSQGGV-SKGMFSSFYFIVLTLFGNYTLLNV>F<LAIAVDNLANAQELTKDEEEMEEA-ANQKL734
CACNA1DAYGGPSSSGMIVCIYFIILFICGNYILLNV>F<LAIAVDNLADAESLNTAQKEEAEE-KERKK796
CACNA1ESQGGV-SSGMWSAIYFIVLTLFGNYTLLNV>F<LAIAVDNLANAQELTKDEQEEEEA-FNQKH727
CACNA1FAYGGPFFPGMLVCIYFIILFICGNYILLNV>F<LAIAVDNLASGDA-GTAKDKGGEK-SNEKD781
CACNA1GS-T-S----SWAALYFIALMTFGNYVLFNL>L<VAILVEGFQ-AEEISKREDASGQL-SCIQL987
CACNA1HS-T-S----SWAALYFVALMTFGNYVLFNL>L<VAILVEGFQ-AEGDANRSDTDEDKTSVHFE1039
CACNA1IS-T-S----PWASLYFVALMTFGNYVLFNL>L<VAILVEGFQAEGDAN-RSYSDEDQSSSNIE886
CACNA1SAYGGPSYPGMLVCIYFIILFVCGNYILLNV>F<LAIAVDNLAEAESLTSAQKAKAEE-KKRRK685
SCN10AV-----GQKSICLILFLTVMVLGNLVVLNL>F<IALLLNSFS-ADNLTAP-EDDGEV-NNLQV912
SCN11AEAN---ASSSLCVIVFILITVIGKLVVLNL>F<IALLLNSFS-NEERNGNLEGEARK-TKVQL834
SCN1AV-----AGQAMCLTVFMMVMVIGNLVVLNL>F<LALLLSSFS-ADNLAAT-DDDNEM-NNLQI1014
SCN2AV-----AGQTMCLTVFMMVMVIGNLVVLNL>F<LALLLSSFS-SDNLAAT-DDDNEM-NNLQI1005
SCN3AV-----AGQTMCLIVFMLVMVIGNLVVLNL>F<LALLLSSFS-SDNLAAT-DDDNEM-NNLQI1006
SCN4AV-----AGQAMCLTVFLMVMVIGNLVVLNL>F<LALLLSSFS-ADSLAAS-DEDGEM-NNLQI824
SCN5AV-----SGQSLCLLVFLLVMVIGNLVVLNL>F<LALLLSSFS-ADNLTAP-DEDREM-NNLQL961
SCN7AV-----AGQSWCIPFYLMVILIGNLLVLYL>F<LA-LVSSFS-SCKDVTA-EENNEA-KNLQL750
SCN8AV-----AGQAMCLIVFMMVMVIGNLVVLNL>F<LALLLSSFS-ADNLAAT-DDDGEM-NNLQI999
SCN9AV-----AGQAMCLIVYMMVMVIGNLVVLNL>F<LALLLSSFS-SDNLTAI-EEDPDA-NNLQI979
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 748 for CACNA1C.