Paralogue Annotation for CACNA1C residue 895

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 895
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 895

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	R1213X	Myoclonic epilepsy of infancy	High	9	12566275, 23195492, 23934111, 26232052, 25525159
SCN1A	R1213Q	Intractable epilepsy	High	9	23195492

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	-LKEKAV-PMPEASAFFIFSSNNRFRLQCH>R<IVNDTIFTNLILFFILLSSISLAAEDPV-Q	924
CACNA1A	RGEDGPK-PMPPYSSMFILSTTNPLRRLCH>Y<ILNLRYFEMCILMVIAMSSIALAAEDPV-Q	1268
CACNA1B	VMRSGPR-PIVPYSSMFCLSPTNLLRRFCH>Y<IVTMRYFEVVILVVIALSSIALAAEDPV-R	1175
CACNA1D	-MKEKIA-PIPEGSAFFILSKTNPIRVGCH>K<LINHHIFTNLILVFIMLSSAALAAEDPI-R	930
CACNA1E	KRETG-K-AMVPHSSMFIFSTTNPIRRACH>Y<IVNLRYFEMCILLVIAASSIALAAEDPV-L	1177
CACNA1F	-PKEKVV-PIPEGSAFFCLSQTNPLRKGCH>T<LIHHHVFTNLILVFIILSSVSLAAEDPI-R	895
CACNA1G	-LP-ACCLERDSWSAY-IFPPQSRFRLLCH>R<IITHKMFDHVVLVIIFLNCITIAMERPKID	1301
CACNA1H	-KP-QWCRSREAWALY-LFSPQNRFRVSCQ>K<VITHKMFDHVVLVFIFLNCVTIALERPDID	1319
CACNA1I	-KP-DWCEVREDWSVY-LFSPENRFRVLCQ>T<IIAHKLFDYVVLAFIFLNCITIALERPQIE	1195
CACNA1S	-LKEKAV-PIPEASSFFIFSPTNKIRVLCH>R<IVNATWFTNFILLFILLSSAALAAEDPI-R	823
SCN10A	RH-CPCCKLDTTKSP---WDVGWQVRKTCY>R<IVEHSWFESFIIFMILLSSGSLAFEDYYLD	1177
SCN11A	CC-FPCCSVDKRKPP---WVIWWNLRKTCY>Q<IVKHSWFESFIIFVILLSSGALIFEDVHLE	1081
SCN1A	QR-FKCCQINVEEGR---GKQWWNLRRTCF>R<IVEHNWFETFIVFMILLSSGALAFEDIYID	1243
SCN2A	RK-FKCCQISIEEGK---GKLWWNLRKTCY>K<IVEHNWFETFIVFMILLSSGALAFEDIYIE	1233
SCN3A	KK-FPFCQVSTEEGK---GKIWWNLRKTCY>S<IVEHNWFETFIVFMILLSSGALAFEDIYIE	1231
SCN4A	QR-WPCLYVDISQGR---GKKWWTLRRACF>K<IVEHNWFETFIVFMILLSSGALAFEDIYIE	1056
SCN5A	RR-CPCCAVDTTQAP---GKVWWRLRKTCY>H<IVEHSWFETFIIFMILLSSGALAFEDIYLE	1230
SCN7A	RG-SSLGQISGASKK---GKIWQNIRKTCC>K<IVENNWFKCFIGLVTLLSTGTLAFEDIYMD	959
SCN8A	QR-FKCCQVNIEEGL---GKSWWILRKTCF>L<IVEHNWFETFIIFMILLSSGALAFEDIYIE	1223
SCN9A	WR-FSCCQVNIESGK---GKIWWNIRKTCY>K<IVEHSWFESFIVLMILLSSGALAFEDIYIE	1206
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Arg895His	c.2684G>A	Unknown			SIFT: Polyphen: