Paralogue Annotation for CACNA1C residue 1247

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1247
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1247

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AM1532ISmall fibre neuropathyMedium9 21698661

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.



CACNA1CNSTYFEYLMFVLILLNTICLAMQHYGQSCL>F<KIAMNILNMLFTGLFTVEMILKLIAFKPKH1277
CACNA1AVSPPFEYTIMAMIALNTIVLMMKFYGASVA>Y<ENALRVFNIVFTSLFSLECVLKVMAFGILN1624
CACNA1BVSPPFEYFIMAMIALNTVVLMMKFYDAPYE>Y<ELMLKCLNIVFTSMFSMECVLKIIAFGVLN1530
CACNA1DNSSPFEYMMFVLIMLNTLCLAMQHYEQSKM>F<NDAMDILNMVFTGVFTVEMVLKVIAFKPKG1283
CACNA1EVSPSFEYTIMAMIALNTVVLMMKYYSAPCT>Y<ELALKYLNIAFTMVFSLECVLKVIAFGFLN1536
CACNA1FNSAAFEYLMFLLILLNTVALAMQHYEQTAP>F<NYAMDILNMVFTGLFTIEMVLKIIAFKPKH1248
CACNA1GTSHYLDLFITGVIGLNVVTMAMEHYQQPQI>L<DEALKICNYIFTVIFVLESVFKLVAFGFRR1669
CACNA1HTSHYLDLFITFIICVNVITMSMEHYNQPKS>L<DEALKYCNYVFTIVFVFEAALKLVAFGFRR1675
CACNA1ITSHYLDIFITFIICLNVVTMSLEHYNQPTS>L<ETALKYCNYMFTTVFVLEAVLKLVAFGLRR1545
CACNA1STSSYFEYLMFALIMLNTICLGMQHYNQSEQ>M<NHISDILNVAFTIIFTLEMILKLMAFKARG1176
SCN10ATRQAFDITIMVLICLNMITMMVETDDQSEE>K<TKILGKINQFFVAVFTGECVMKMFALR-QY1533
SCN11ATSQIFDIIIISLIILNMISMMAESYNQPKA>M<KSILDHLNWVFVVIFTLECLIKIFALR-QY1423
SCN1ATRQVFDISIMILICLNMVTMMVETDDQSEY>V<TTILSRINLVFIVLFTGECVLKLISLR-HY1598
SCN2ATKQVFDISIMILICLNMVTMMVETDDQSQE>M<TNILYWINLVFIVLFTGECVLKLISLR-YY1588
SCN3ATRQVFDISIMILICLNMVTMMVETDDQGKY>M<TLVLSRINLVFIVLFTGEFVLKLVSLR-HY1583
SCN4ATKQAFDITIMILICLNMVTMMVETDNQSQL>K<VDILYNINMIFIIIFTGECVLKMLALR-QY1410
SCN5ATKQAFDVTIMFLICLNMVTMMVETDDQSPE>K<INILAKINLLFVAIFTGECIVKLAALR-HY1585
SCN7ATSQAFNVIVMVLICFQAIAMMIDTDVQSLQ>M<SIALYWINSIFVMLYTMECILKLIAFR-CF1308
SCN8ATQQAFDIVIMMLICLNMVTMMVETDTQSKQ>M<ENILYWINLVFVIFFTCECVLKMFALR-HY1579
SCN9ATNQAFDISIMVLICLNMVTMMVEKEGQSQH>M<TEVLYWINVVFIILFTGECVLKLISLR-HY1561
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1247Lc.3739T>C Putative BenignSIFT:
Polyphen: