Paralogue Annotation for CACNA1C residue 892

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 892
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 892

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1210K	Myoclonic epilepsy of infancy	Medium	9	19350499, 24168886

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-PMPEASAFFIFSSNNRFRL>Q<CHRIVNDTIFTNLILFFILLSSISLAAEDP	922
CACNA1A	EDDRGEDGPK-PMPPYSSMFILSTTNPLRR>L<CHYILNLRYFEMCILMVIAMSSIALAAEDP	1266
CACNA1B	ADDVMRSGPR-PIVPYSSMFCLSPTNLLRR>F<CHYIVTMRYFEVVILVVIALSSIALAAEDP	1173
CACNA1D	----MKEKIA-PIPEGSAFFILSKTNPIRV>G<CHKLINHHIFTNLILVFIMLSSAALAAEDP	928
CACNA1E	KKEKRETG-K-AMVPHSSMFIFSTTNPIRR>A<CHYIVNLRYFEMCILLVIAASSIALAAEDP	1175
CACNA1F	----PKEKVV-PIPEGSAFFCLSQTNPLRK>G<CHTLIHHHVFTNLILVFIILSSVSLAAEDP	893
CACNA1G	----LP-ACCLERDSWSAY-IFPPQSRFRL>L<CHRIITHKMFDHVVLVIIFLNCITIAMERP	1298
CACNA1H	----KP-QWCRSREAWALY-LFSPQNRFRV>S<CQKVITHKMFDHVVLVFIFLNCVTIALERP	1316
CACNA1I	----KP-DWCEVREDWSVY-LFSPENRFRV>L<CQTIIAHKLFDYVVLAFIFLNCITIALERP	1192
CACNA1S	----LKEKAV-PIPEASSFFIFSPTNKIRV>L<CHRIVNATWFTNFILLFILLSSAALAAEDP	821
SCN10A	GCIRH-CPCCKLDTTKSP---WDVGWQVRK>T<CYRIVEHSWFESFIIFMILLSSGSLAFEDY	1174
SCN11A	GFGCC-FPCCSVDKRKPP---WVIWWNLRK>T<CYQIVKHSWFESFIIFVILLSSGALIFEDV	1078
SCN1A	GCVQR-FKCCQINVEEGR---GKQWWNLRR>T<CFRIVEHNWFETFIVFMILLSSGALAFEDI	1240
SCN2A	DCVRK-FKCCQISIEEGK---GKLWWNLRK>T<CYKIVEHNWFETFIVFMILLSSGALAFEDI	1230
SCN3A	GCIKK-FPFCQVSTEEGK---GKIWWNLRK>T<CYSIVEHNWFETFIVFMILLSSGALAFEDI	1228
SCN4A	ACVQR-WPCLYVDISQGR---GKKWWTLRR>A<CFKIVEHNWFETFIVFMILLSSGALAFEDI	1053
SCN5A	GCVRR-CPCCAVDTTQAP---GKVWWRLRK>T<CYHIVEHSWFETFIIFMILLSSGALAFEDI	1227
SCN7A	GCRRG-SSLGQISGASKK---GKIWQNIRK>T<CCKIVENNWFKCFIGLVTLLSTGTLAFEDI	956
SCN8A	GCVQR-FKCCQVNIEEGL---GKSWWILRK>T<CFLIVEHNWFETFIIFMILLSSGALAFEDI	1220
SCN9A	GCVWR-FSCCQVNIESGK---GKIWWNIRK>T<CYKIVEHSWFESFIVLMILLSSGALAFEDI	1203
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q892H	c.2676G>C	Putative Benign			SIFT: Polyphen: