Paralogue Annotation for CACNA1C residue 936

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 936
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 3


Paralogue Variants mapped to CACNA1C residue 936

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1255DDravet syndromeMedium9 18930999
SCN1AA1255PDravet syndromeMedium9 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.



CACNA1CLFFILLSSISLAAEDPV-QHTSFRNHILFY>F<DIVFTTIFTIEIALKMTAYGAFLHKGSFCR966
CACNA1ALMVIAMSSIALAAEDPV-QPNAPRNNVLRY>F<DYVFTGVFTFEMVIKMIDLGLVLHQGAYFR1310
CACNA1BLVVIALSSIALAAEDPV-RTDSPRNNALKY>L<DYIFTGVFTFEMVIKMIDLGLLLHPGAYFR1217
CACNA1DLVFIMLSSAALAAEDPI-RSHSFRNTILGY>F<DYAFTAIFTVEILLKMTTFGAFLHKGAFCR972
CACNA1ELLVIAASSIALAAEDPV-LTNSERNKVLRY>F<DYVFTGVFTFEMVIKMIDQGLILQDGSYFR1219
CACNA1FLVFIILSSVSLAAEDPI-RAHSFRNHILGY>F<DYAFTSIFTVEILLKMTVFGAFLHRGSFCR937
CACNA1GLVIIFLNCITIAMERPKIDPHSAERIFLTL>S<NYIFTAVFLAEMTVKVVALGWCFGEQAYLR1343
CACNA1HLVFIFLNCVTIALERPDIDPGSTERVFLSV>S<NYIFTAIFVAEMMVKVVALGLLSGEHAYLQ1361
CACNA1ILAFIFLNCITIALERPQIEAGSTERIFLTV>S<NYIFTAIFVGEMTLKVVSLGLYFGEQAYLR1237
CACNA1SLLFILLSSAALAAEDPI-RADSMRNQILKH>F<DIGFTSVFTVEIVLKMTTYGAFLHKGSFCR865
SCN10AIFMILLSSGSLAFEDYYLDQKPTVKALLEY>T<DRVFTFIFVFEMLLKWVAYGF----KKYFT1215
SCN11AIFVILLSSGALIFEDVHLENQPKIQELLNC>T<DIIFTHIFILEMVLKWVAFGF----GKYFT1119
SCN1AVFMILLSSGALAFEDIYIDQRKTIKTMLEY>A<DKVFTYIFILEMLLKWVAYGY----QTYFT1281
SCN2AVFMILLSSGALAFEDIYIEQRKTIKTMLEY>A<DKVFTYIFILEMLLKWVAYGF----QVYFT1271
SCN3AVFMILLSSGALAFEDIYIEQRKTIKTMLEY>A<DKVFTYIFILEMLLKWVAYGF----QTYFT1269
SCN4AVFMILLSSGALAFEDIYIEQRRVIRTILEY>A<DKVFTYIFIMEMLLKWVAYGF----KVYFT1094
SCN5AIFMILLSSGALAFEDIYLEERKTIKVLLEY>A<DKMFTYVFVLEMLLKWVAYGF----KKYFT1268
SCN7AGLVTLLSTGTLAFEDIYMDQRKTIKILLEY>A<DMIFTYIFILEMLLKWMAYGF----KAYFS997
SCN8AIFMILLSSGALAFEDIYIEQRKTIRTILEY>A<DKVFTYIFILEMLLKWTAYGF----VKFFT1261
SCN9AVLMILLSSGALAFEDIYIERKKTIKIILEY>A<DKIFTYIFILEMLLKWIAYGY----KTYFT1244
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 936 for CACNA1C.