Paralogue Annotation for CACNA1C residue 247

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 247
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 247

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT226MMyoclonic epilepsy of infancyMedium9 17347258, 23895530, 25401298
SCN1AT226KDravet syndromeMedium9 21719429
SCN1AT226RMyoclonic epilepsy of infancyMedium9 23195492
CACNA1FL216RCongenital stationary night blindnessHigh9 25307992

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.



CACNA1CA-DGANALGGKGAGFDVKALRAFRVLRPLR>L<VSGVPSLQVVLNSIIKAMVPLLHIALLVLF277
CACNA1A---------------DLRTLRAVRVLRPLK>L<VSGIPSLQVVLKSIMKAMIPLLQIGLLLFF235
CACNA1B---------------DLRTLRAVRVLRPLK>L<VSGIPSLQVVLKSIMKAMVPLLQIGLLLFF232
CACNA1DETEGGNHSSGKSGGFDVKALRAFRVLRPLR>L<VSGVPSLQVVLNSIIKAMVPLLHIALLVLF280
CACNA1E------------THVDLRTLRAVRVLRPLK>L<VSGIPSLQIVLKSIMKAMVPLLQIGLLLFF230
CACNA1FRPGDAPHTGGKPGGFDVKALRAFRVLRPLR>L<VSGVPSLHIVLNSIMKALVPLLHIALLVLF246
CACNA1G-------------NVSFSAVRTVRVLRPLR>A<INRVPSMRILVTLLLDTLPMLGNVLLLCFF220
CACNA1H-------------NVSLSAIRTVRVLRPLR>A<INRVPSMRILVTLLLDTLPMLGNVLLLCFF239
CACNA1I-------------NINLSAIRTVRVLRPLK>A<INRVPSMRILVNLLLDTLPMLGNVLLLCFF218
CACNA1SIQSHTAPMSSKGAGLDVKALRAFRVLRPLR>L<VSGVPSLQVVLNSIFKAMLPLFHIALLVLF205
SCN10A---------------GISGLRTFRVLRALK>T<VSVIPGLKVIVGALIHSVKKLADVTILTIF255
SCN11A--------------IKLLPLRTFRVFRALK>A<ISVVSRLKVIVGALLRSVKKLVNVIILTFF262
SCN1A---------------NVSALRTFRVLRALK>T<ISVIPGLKTIVGALIQSVKKLSDVMILTVF256
SCN2A---------------NVSALRTFRVLRALK>T<ISVIPGLKTIVGALIQSVKKLSDVMILTVF257
SCN3A---------------NVSALRTFRVLRALK>T<ISVIPGLKTIVGALIQSVKKLSDVMILTVF256
SCN4A---------------NISALRTFRVLRALK>T<ITVIPGLKTIVGALIQSVKKLSDVMILTVF259
SCN5A---------------NLSALRTFRVLRALK>T<ISVIPGLKTIVGALIQSVKKLADVMVLTVF259
SCN7A---------------FIPTLQTARTLRILK>I<IPLNQGLKSLVGVLIHCLKQLIGVIILTLF246
SCN8A---------------NVSALRTFRVLRALK>T<ISVIPGLKTIVGALIQSVKKLSDVMILTVF260
SCN9A---------------NVSALRTFRVLRALK>T<ISVIPGLKTIVGALIQSVKKLSDVMILTVF254
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 247 for CACNA1C.