Paralogue Annotation for CACNA1C residue 712

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 712
Reference Amino Acid: M - Methionine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 712

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM956KDravet syndrome C ?High9 21248271
SCN1AM956TFebrile seizures plusHigh9 25576396, 25576396, 27066544

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.



CACNA1CMQTRRSTFDNFPQSLLTVFQILTGEDWNSV>M<YDGIMAYGGPSFPGMLVCIYFIILFICGNY742
CACNA1AG-TPPTNFDTFPAAIMTVFQILTGEDWNEV>M<YDGIKSQGGV-QGGMVFSIYFIVLTLFGNY703
CACNA1BE-TPTTNFDTFPAAILTVFQILTGEDWNAV>M<YHGIESQGGV-SKGMFSSFYFIVLTLFGNY699
CACNA1DTQTKRSTFDNFPQALLTVFQILTGEDWNAV>M<YDGIMAYGGPSSSGMIVCIYFIILFICGNY761
CACNA1EG-TPSANFDTFPAAIMTVFQILTGEDWNEV>M<YNGIRSQGGV-SSGMWSAIYFIVLTLFGNY692
CACNA1FTHTKRSTFDTFPQALLTVFQILTGEDWNVV>M<YDGIMAYGGPFFPGMLVCIYFIILFICGNY747
CACNA1GTLPDRKNFDSLLWAIVTVFQILTQEDWNKV>L<YNGMAS-T-S----SWAALYFIALMTFGNY953
CACNA1HTVPDRKNFDSLLWAIVTVFQILTQEDWNVV>L<YNGMAS-T-S----SWAALYFVALMTFGNY1004
CACNA1ITVPDRKNFDSLLWAIVTVFQILTQEDWNVV>L<YNGMAS-T-S----PWASLYFVALMTFGNY851
CACNA1STEVRRSNFDNFPQALISVFQVLTGEDWTSM>M<YNGIMAYGGPSYPGMLVCIYFIILFVCGNY650
SCN10AEDWPRWHMHDFFHSFLIVFRILCGE-WIEN>M<WACMEV-----GQKSICLILFLTVMVLGNL879
SCN11ASCLRHWHMGDFWHSFLVVFRILCGE-WIEN>M<WECMQEAN---ASSSLCVIVFILITVIGKL800
SCN1ACQLPRWHMNDFFHSFLIVFRVLCGE-WIET>M<WDCMEV-----AGQAMCLTVFMMVMVIGNL981
SCN2ACELPRWHMHDFFHSFLIVFRVLCGE-WIET>M<WDCMEV-----AGQTMCLTVFMMVMVIGNL972
SCN3ACTLPRWHMNDFFHSFLIVFRVLCGE-WIET>M<WDCMEV-----AGQTMCLIVFMLVMVIGNL973
SCN4ACNLPRWHMHDFFHSFLIVFRILCGE-WIET>M<WDCMEV-----AGQAMCLTVFLMVMVIGNL791
SCN5A-LLPRWHMMDFFHAFLIIFRILCGE-WIET>M<WDCMEV-----SGQSLCLLVFLLVMVIGNL928
SCN7ACQLPRWHMHDFFHSFLNVFRILCGE-WVET>L<WDCMEV-----AGQSWCIPFYLMVILIGNL718
SCN8ACELPRWHMHDFFHSFLIVFRVLCGE-WIET>M<WDCMEV-----AGQAMCLIVFMMVMVIGNL966
SCN9ACTLPRWHMNDFFHSFLIVFRVLCGE-WIET>M<WDCMEV-----AGQAMCLIVYMMVMVIGNL946
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 712 for CACNA1C.