Paralogue Annotation for CACNA1C residue 253

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 253
Reference Amino Acid: S - Serine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 253

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AG232SDravet syndromeMedium9 18930999

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.



CACNA1CALGGKGAGFDVKALRAFRVLRPLRLVSGVP>S<LQVVLNSIIKAMVPLLHIALLVLFVIIIYA283
CACNA1A---------DLRTLRAVRVLRPLKLVSGIP>S<LQVVLKSIMKAMIPLLQIGLLLFFAILIFA241
CACNA1B---------DLRTLRAVRVLRPLKLVSGIP>S<LQVVLKSIMKAMVPLLQIGLLLFFAILMFA238
CACNA1DHSSGKSGGFDVKALRAFRVLRPLRLVSGVP>S<LQVVLNSIIKAMVPLLHIALLVLFVIIIYA286
CACNA1E------THVDLRTLRAVRVLRPLKLVSGIP>S<LQIVLKSIMKAMVPLLQIGLLLFFAILMFA236
CACNA1FHTGGKPGGFDVKALRAFRVLRPLRLVSGVP>S<LHIVLNSIMKALVPLLHIALLVLFVIIIYA252
CACNA1G-------NVSFSAVRTVRVLRPLRAINRVP>S<MRILVTLLLDTLPMLGNVLLLCFFVFFIFG226
CACNA1H-------NVSLSAIRTVRVLRPLRAINRVP>S<MRILVTLLLDTLPMLGNVLLLCFFVFFIFG245
CACNA1I-------NINLSAIRTVRVLRPLKAINRVP>S<MRILVNLLLDTLPMLGNVLLLCFFVFFIFG224
CACNA1SPMSSKGAGLDVKALRAFRVLRPLRLVSGVP>S<LQVVLNSIFKAMLPLFHIALLVLFMVIIYA211
SCN10A---------GISGLRTFRVLRALKTVSVIP>G<LKVIVGALIHSVKKLADVTILTIFCLSVFA261
SCN11A--------IKLLPLRTFRVFRALKAISVVS>R<LKVIVGALLRSVKKLVNVIILTFFCLSIFA268
SCN1A---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA262
SCN2A---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA263
SCN3A---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA262
SCN4A---------NISALRTFRVLRALKTITVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA265
SCN5A---------NLSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLADVMVLTVFCLSVFA265
SCN7A---------FIPTLQTARTLRILKIIPLNQ>G<LKSLVGVLIHCLKQLIGVIILTLFFLSIFS252
SCN8A---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA266
SCN9A---------NVSALRTFRVLRALKTISVIP>G<LKTIVGALIQSVKKLSDVMILTVFCLSVFA260
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 253 for CACNA1C.