Paralogue Annotation for CACNA1C residue 716

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 716
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 716

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM960VMyoclonic epilepsy of infancyMedium8 12566275
SCN1AM960TGeneralized epilepsy with febrile seizures plus ?Medium8 21248271
SCN1AM960RDravet syndromeMedium8 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.



CACNA1CRSTFDNFPQSLLTVFQILTGEDWNSVMYDG>I<MAYGGPSFPGMLVCIYFIILFICGNYILLN746
CACNA1APTNFDTFPAAIMTVFQILTGEDWNEVMYDG>I<KSQGGV-QGGMVFSIYFIVLTLFGNYTLLN707
CACNA1BTTNFDTFPAAILTVFQILTGEDWNAVMYHG>I<ESQGGV-SKGMFSSFYFIVLTLFGNYTLLN703
CACNA1DRSTFDNFPQALLTVFQILTGEDWNAVMYDG>I<MAYGGPSSSGMIVCIYFIILFICGNYILLN765
CACNA1ESANFDTFPAAIMTVFQILTGEDWNEVMYNG>I<RSQGGV-SSGMWSAIYFIVLTLFGNYTLLN696
CACNA1FRSTFDTFPQALLTVFQILTGEDWNVVMYDG>I<MAYGGPFFPGMLVCIYFIILFICGNYILLN751
CACNA1GRKNFDSLLWAIVTVFQILTQEDWNKVLYNG>M<AS-T-S----SWAALYFIALMTFGNYVLFN957
CACNA1HRKNFDSLLWAIVTVFQILTQEDWNVVLYNG>M<AS-T-S----SWAALYFVALMTFGNYVLFN1008
CACNA1IRKNFDSLLWAIVTVFQILTQEDWNVVLYNG>M<AS-T-S----PWASLYFVALMTFGNYVLFN855
CACNA1SRSNFDNFPQALISVFQVLTGEDWTSMMYNG>I<MAYGGPSYPGMLVCIYFIILFVCGNYILLN654
SCN10ARWHMHDFFHSFLIVFRILCGE-WIENMWAC>M<EV-----GQKSICLILFLTVMVLGNLVVLN883
SCN11AHWHMGDFWHSFLVVFRILCGE-WIENMWEC>M<QEAN---ASSSLCVIVFILITVIGKLVVLN804
SCN1ARWHMNDFFHSFLIVFRVLCGE-WIETMWDC>M<EV-----AGQAMCLTVFMMVMVIGNLVVLN985
SCN2ARWHMHDFFHSFLIVFRVLCGE-WIETMWDC>M<EV-----AGQTMCLTVFMMVMVIGNLVVLN976
SCN3ARWHMNDFFHSFLIVFRVLCGE-WIETMWDC>M<EV-----AGQTMCLIVFMLVMVIGNLVVLN977
SCN4ARWHMHDFFHSFLIVFRILCGE-WIETMWDC>M<EV-----AGQAMCLTVFLMVMVIGNLVVLN795
SCN5ARWHMMDFFHAFLIIFRILCGE-WIETMWDC>M<EV-----SGQSLCLLVFLLVMVIGNLVVLN932
SCN7ARWHMHDFFHSFLNVFRILCGE-WVETLWDC>M<EV-----AGQSWCIPFYLMVILIGNLLVLY722
SCN8ARWHMHDFFHSFLIVFRVLCGE-WIETMWDC>M<EV-----AGQAMCLIVFMMVMVIGNLVVLN970
SCN9ARWHMNDFFHSFLIVFRVLCGE-WIETMWDC>M<EV-----AGQAMCLIVYMMVMVIGNLVVLN950
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 716 for CACNA1C.