Paralogue Annotation for CACNA1C residue 921

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 921
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 921

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1239Y	Dravet syndrome	High	9	18930999
SCN1A	D1239G	Dravet syndrome	High	9	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.

CACNA1C	LQCHRIVNDTIFTNLILFFILLSSISLAAE>D<PV-QHTSFRNHILFYFDIVFTTIFTIEIAL	950
CACNA1A	RLCHYILNLRYFEMCILMVIAMSSIALAAE>D<PV-QPNAPRNNVLRYFDYVFTGVFTFEMVI	1294
CACNA1B	RFCHYIVTMRYFEVVILVVIALSSIALAAE>D<PV-RTDSPRNNALKYLDYIFTGVFTFEMVI	1201
CACNA1D	VGCHKLINHHIFTNLILVFIMLSSAALAAE>D<PI-RSHSFRNTILGYFDYAFTAIFTVEILL	956
CACNA1E	RACHYIVNLRYFEMCILLVIAASSIALAAE>D<PV-LTNSERNKVLRYFDYVFTGVFTFEMVI	1203
CACNA1F	KGCHTLIHHHVFTNLILVFIILSSVSLAAE>D<PI-RAHSFRNHILGYFDYAFTSIFTVEILL	921
CACNA1G	LLCHRIITHKMFDHVVLVIIFLNCITIAME>R<PKIDPHSAERIFLTLSNYIFTAVFLAEMTV	1327
CACNA1H	VSCQKVITHKMFDHVVLVFIFLNCVTIALE>R<PDIDPGSTERVFLSVSNYIFTAIFVAEMMV	1345
CACNA1I	VLCQTIIAHKLFDYVVLAFIFLNCITIALE>R<PQIEAGSTERIFLTVSNYIFTAIFVGEMTL	1221
CACNA1S	VLCHRIVNATWFTNFILLFILLSSAALAAE>D<PI-RADSMRNQILKHFDIGFTSVFTVEIVL	849
SCN10A	KTCYRIVEHSWFESFIIFMILLSSGSLAFE>D<YYLDQKPTVKALLEYTDRVFTFIFVFEMLL	1203
SCN11A	KTCYQIVKHSWFESFIIFVILLSSGALIFE>D<VHLENQPKIQELLNCTDIIFTHIFILEMVL	1107
SCN1A	RTCFRIVEHNWFETFIVFMILLSSGALAFE>D<IYIDQRKTIKTMLEYADKVFTYIFILEMLL	1269
SCN2A	KTCYKIVEHNWFETFIVFMILLSSGALAFE>D<IYIEQRKTIKTMLEYADKVFTYIFILEMLL	1259
SCN3A	KTCYSIVEHNWFETFIVFMILLSSGALAFE>D<IYIEQRKTIKTMLEYADKVFTYIFILEMLL	1257
SCN4A	RACFKIVEHNWFETFIVFMILLSSGALAFE>D<IYIEQRRVIRTILEYADKVFTYIFIMEMLL	1082
SCN5A	KTCYHIVEHSWFETFIIFMILLSSGALAFE>D<IYLEERKTIKVLLEYADKMFTYVFVLEMLL	1256
SCN7A	KTCCKIVENNWFKCFIGLVTLLSTGTLAFE>D<IYMDQRKTIKILLEYADMIFTYIFILEMLL	985
SCN8A	KTCFLIVEHNWFETFIIFMILLSSGALAFE>D<IYIEQRKTIRTILEYADKVFTYIFILEMLL	1249
SCN9A	KTCYKIVEHSWFESFIVLMILLSSGALAFE>D<IYIERKKTIKIILEYADKIFTYIFILEMLL	1232
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 921 for CACNA1C.