Paralogue Annotation for CACNA1C residue 915

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 915
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 915

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	G1233R	Myoclonic epilepsy of infancy	Medium	9	12821740
CACNA1S	A814T	Takotsubo (stress) cardiomyopathy	Medium	9	25132214, 25735680, 27153395

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	SNNRFRLQCHRIVNDTIFTNLILFFILLSS>I<SLAAEDPV-QHTSFRNHILFYFDIVFTTIF	944
CACNA1A	TTNPLRRLCHYILNLRYFEMCILMVIAMSS>I<ALAAEDPV-QPNAPRNNVLRYFDYVFTGVF	1288
CACNA1B	PTNLLRRFCHYIVTMRYFEVVILVVIALSS>I<ALAAEDPV-RTDSPRNNALKYLDYIFTGVF	1195
CACNA1D	KTNPIRVGCHKLINHHIFTNLILVFIMLSS>A<ALAAEDPI-RSHSFRNTILGYFDYAFTAIF	950
CACNA1E	TTNPIRRACHYIVNLRYFEMCILLVIAASS>I<ALAAEDPV-LTNSERNKVLRYFDYVFTGVF	1197
CACNA1F	QTNPLRKGCHTLIHHHVFTNLILVFIILSS>V<SLAAEDPI-RAHSFRNHILGYFDYAFTSIF	915
CACNA1G	PQSRFRLLCHRIITHKMFDHVVLVIIFLNC>I<TIAMERPKIDPHSAERIFLTLSNYIFTAVF	1321
CACNA1H	PQNRFRVSCQKVITHKMFDHVVLVFIFLNC>V<TIALERPDIDPGSTERVFLSVSNYIFTAIF	1339
CACNA1I	PENRFRVLCQTIIAHKLFDYVVLAFIFLNC>I<TIALERPQIEAGSTERIFLTVSNYIFTAIF	1215
CACNA1S	PTNKIRVLCHRIVNATWFTNFILLFILLSS>A<ALAAEDPI-RADSMRNQILKHFDIGFTSVF	843
SCN10A	VGWQVRKTCYRIVEHSWFESFIIFMILLSS>G<SLAFEDYYLDQKPTVKALLEYTDRVFTFIF	1197
SCN11A	IWWNLRKTCYQIVKHSWFESFIIFVILLSS>G<ALIFEDVHLENQPKIQELLNCTDIIFTHIF	1101
SCN1A	QWWNLRRTCFRIVEHNWFETFIVFMILLSS>G<ALAFEDIYIDQRKTIKTMLEYADKVFTYIF	1263
SCN2A	LWWNLRKTCYKIVEHNWFETFIVFMILLSS>G<ALAFEDIYIEQRKTIKTMLEYADKVFTYIF	1253
SCN3A	IWWNLRKTCYSIVEHNWFETFIVFMILLSS>G<ALAFEDIYIEQRKTIKTMLEYADKVFTYIF	1251
SCN4A	KWWTLRRACFKIVEHNWFETFIVFMILLSS>G<ALAFEDIYIEQRRVIRTILEYADKVFTYIF	1076
SCN5A	VWWRLRKTCYHIVEHSWFETFIIFMILLSS>G<ALAFEDIYLEERKTIKVLLEYADKMFTYVF	1250
SCN7A	IWQNIRKTCCKIVENNWFKCFIGLVTLLST>G<TLAFEDIYMDQRKTIKILLEYADMIFTYIF	979
SCN8A	SWWILRKTCFLIVEHNWFETFIIFMILLSS>G<ALAFEDIYIEQRKTIRTILEYADKVFTYIF	1243
SCN9A	IWWNIRKTCYKIVEHSWFESFIVLMILLSS>G<ALAFEDIYIERKKTIKIILEYADKIFTYIF	1226
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I915V	c.2743A>G	Putative Benign			SIFT: Polyphen: