Paralogue Annotation for CACNA1C residue 888

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 888
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 888

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	R1193Q	Sudden unexplained nocturnal death syndrome	High	8	11823453, 15121794, 15689442, 15851227, 15992732, 17605181, 18976777, 20129283, 20981092, 22378279, 22995991, 22682427, 23465283, 23853484, 22519808, 24784157, 25051102, 26131924, 26159999, 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	--------LKEKAV-PMPEASAFFIFSSNN>R<FRLQCHRIVNDTIFTNLILFFILLSSISLA	918
CACNA1A	KEEEEDDRGEDGPK-PMPPYSSMFILSTTN>P<LRRLCHYILNLRYFEMCILMVIAMSSIALA	1262
CACNA1B	KEVEADDVMRSGPR-PIVPYSSMFCLSPTN>L<LRRFCHYIVTMRYFEVVILVVIALSSIALA	1169
CACNA1D	--------MKEKIA-PIPEGSAFFILSKTN>P<IRVGCHKLINHHIFTNLILVFIMLSSAALA	924
CACNA1E	KKKQKKEKRETG-K-AMVPHSSMFIFSTTN>P<IRRACHYIVNLRYFEMCILLVIAASSIALA	1171
CACNA1F	--------PKEKVV-PIPEGSAFFCLSQTN>P<LRKGCHTLIHHHVFTNLILVFIILSSVSLA	889
CACNA1G	--------LP-ACCLERDSWSAY-IFPPQS>R<FRLLCHRIITHKMFDHVVLVIIFLNCITIA	1294
CACNA1H	--------KP-QWCRSREAWALY-LFSPQN>R<FRVSCQKVITHKMFDHVVLVFIFLNCVTIA	1312
CACNA1I	--------KP-DWCEVREDWSVY-LFSPEN>R<FRVLCQTIIAHKLFDYVVLAFIFLNCITIA	1188
CACNA1S	--------LKEKAV-PIPEASSFFIFSPTN>K<IRVLCHRIVNATWFTNFILLFILLSSAALA	817
SCN10A	CFTEGCIRH-CPCCKLDTTKSP---WDVGW>Q<VRKTCYRIVEHSWFESFIIFMILLSSGSLA	1170
SCN11A	CLPKGFGCC-FPCCSVDKRKPP---WVIWW>N<LRKTCYQIVKHSWFESFIIFVILLSSGALI	1074
SCN1A	CFTEGCVQR-FKCCQINVEEGR---GKQWW>N<LRRTCFRIVEHNWFETFIVFMILLSSGALA	1236
SCN2A	CFTEDCVRK-FKCCQISIEEGK---GKLWW>N<LRKTCYKIVEHNWFETFIVFMILLSSGALA	1226
SCN3A	CFTEGCIKK-FPFCQVSTEEGK---GKIWW>N<LRKTCYSIVEHNWFETFIVFMILLSSGALA	1224
SCN4A	CFTEACVQR-WPCLYVDISQGR---GKKWW>T<LRRACFKIVEHNWFETFIVFMILLSSGALA	1049
SCN5A	CFTEGCVRR-CPCCAVDTTQAP---GKVWW>R<LRKTCYHIVEHSWFETFIIFMILLSSGALA	1223
SCN7A	HLKNGCRRG-SSLGQISGASKK---GKIWQ>N<IRKTCCKIVENNWFKCFIGLVTLLSTGTLA	952
SCN8A	CFTEGCVQR-FKCCQVNIEEGL---GKSWW>I<LRKTCFLIVEHNWFETFIIFMILLSSGALA	1216
SCN9A	CFTDGCVWR-FSCCQVNIESGK---GKIWW>N<IRKTCYKIVEHSWFESFIVLMILLSSGALA	1199
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R888S	c.2664G>C	Putative Benign			SIFT: Polyphen: