Paralogue Annotation for CACNA1C residue 862

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 862
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to CACNA1C residue 862

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	E1138A	Long QT syndrome	Low	3	19862833

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	----------------------------RP>L<---------SEL----------H-------	866
CACNA1A	NPSGTQTNSAKTARKPDHTTVDIPPACPPP>L<---------NHTVVQVNKNANPDPLPKKEE	1200
CACNA1B	ADNQRNVTRMGSQPPDPNTIVHIPVMLTGP>L<---------GEATVVPSGNVD---LESQAE	1107
CACNA1D	----------------------------RR>I<---------SEL----------N-------	872
CACNA1E	AIPDVDP-------LVDSTVVHISNKTDG->-<----------EASPLKEAEI----REDEEE	1110
CACNA1F	----------------------------EL>L<---------QEV----------V-------	837
CACNA1G	----------------------------RA>W<---------IRA----------R-------	1243
CACNA1H	----------------------------HK>V<---------LEP----------Y-------	1261
CACNA1I	----------------------------RK>M<---------IDV----------Y-------	1137
CACNA1S	----------------------------RP>L<---------AEL----------Q-------	765
SCN10A	------------TSSSEGSTVDCLDPEEIL>R<KIPELADDLEEP------------------	1111
SCN11A	-----------TSILSECSTIDLQDGFG-->W<LP--EMVPKKQP------------------	1015
SCN1A	------------SSSSEGSTVDIGAPVE-->E<QPVVEPEETLEP------------------	1177
SCN2A	------------TSSSEGSTVDIGAPAEG->E<QPEVEPEESLEP------------------	1167
SCN3A	------------TSSSEGSTVDVVLPREG->E<QAETEPEEDLKP------------------	1165
SCN4A	------------GNSSVCSTADYKPPEEDP>E<EQAEENPEGEQP------------------	990
SCN5A	------------DSCSEGSTADMTNTAELL>E<QIPDLGQDVKDP------------------	1164
SCN7A	------------SSSSECSTVDIAISEEE->-<EM----FYGGER------------------	893
SCN8A	------------TSSSEGSTIDIKPEVE-->E<VPVEQPEEYLDP------------------	1157
SCN9A	------------SSSSECSTVDNPLPGEG->E<EAEAEPMNSDEP------------------	1140
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 862 for CACNA1C.