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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	M1532I	Small fibre neuropathy	Medium	9	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.

CACNA1C	NSTYFEYLMFVLILLNTICLAMQHYGQSCL>F<KIAMNILNMLFTGLFTVEMILKLIAFKPKH	1277
CACNA1A	VSPPFEYTIMAMIALNTIVLMMKFYGASVA>Y<ENALRVFNIVFTSLFSLECVLKVMAFGILN	1624
CACNA1B	VSPPFEYFIMAMIALNTVVLMMKFYDAPYE>Y<ELMLKCLNIVFTSMFSMECVLKIIAFGVLN	1530
CACNA1D	NSSPFEYMMFVLIMLNTLCLAMQHYEQSKM>F<NDAMDILNMVFTGVFTVEMVLKVIAFKPKG	1283
CACNA1E	VSPSFEYTIMAMIALNTVVLMMKYYSAPCT>Y<ELALKYLNIAFTMVFSLECVLKVIAFGFLN	1536
CACNA1F	NSAAFEYLMFLLILLNTVALAMQHYEQTAP>F<NYAMDILNMVFTGLFTIEMVLKIIAFKPKH	1248
CACNA1G	TSHYLDLFITGVIGLNVVTMAMEHYQQPQI>L<DEALKICNYIFTVIFVLESVFKLVAFGFRR	1669
CACNA1H	TSHYLDLFITFIICVNVITMSMEHYNQPKS>L<DEALKYCNYVFTIVFVFEAALKLVAFGFRR	1675
CACNA1I	TSHYLDIFITFIICLNVVTMSLEHYNQPTS>L<ETALKYCNYMFTTVFVLEAVLKLVAFGLRR	1545
CACNA1S	TSSYFEYLMFALIMLNTICLGMQHYNQSEQ>M<NHISDILNVAFTIIFTLEMILKLMAFKARG	1176
SCN10A	TRQAFDITIMVLICLNMITMMVETDDQSEE>K<TKILGKINQFFVAVFTGECVMKMFALR-QY	1533
SCN11A	TSQIFDIIIISLIILNMISMMAESYNQPKA>M<KSILDHLNWVFVVIFTLECLIKIFALR-QY	1423
SCN1A	TRQVFDISIMILICLNMVTMMVETDDQSEY>V<TTILSRINLVFIVLFTGECVLKLISLR-HY	1598
SCN2A	TKQVFDISIMILICLNMVTMMVETDDQSQE>M<TNILYWINLVFIVLFTGECVLKLISLR-YY	1588
SCN3A	TRQVFDISIMILICLNMVTMMVETDDQGKY>M<TLVLSRINLVFIVLFTGEFVLKLVSLR-HY	1583
SCN4A	TKQAFDITIMILICLNMVTMMVETDNQSQL>K<VDILYNINMIFIIIFTGECVLKMLALR-QY	1410
SCN5A	TKQAFDVTIMFLICLNMVTMMVETDDQSPE>K<INILAKINLLFVAIFTGECIVKLAALR-HY	1585
SCN7A	TSQAFNVIVMVLICFQAIAMMIDTDVQSLQ>M<SIALYWINSIFVMLYTMECILKLIAFR-CF	1308
SCN8A	TQQAFDIVIMMLICLNMVTMMVETDTQSKQ>M<ENILYWINLVFVIFFTCECVLKMFALR-HY	1579
SCN9A	TNQAFDISIMVLICLNMVTMMVEKEGQSQH>M<TEVLYWINVVFIILFTGECVLKLISLR-HY	1561
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F1247L	c.3739T>C	Putative Benign			SIFT: Polyphen: