Paralogue Annotation for CACNA1C residue 311

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 311
Reference Amino Acid: D - Aspartate
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 311

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	G319S	Brugada syndrome	Low	3	11901046

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	------------------------------>D<--DPSPCALETGHGRQ-CQN-GTVCKPGWD	337
CACNA1A	------------------------------>E<--SPAPCGTEEPA-RT-C-PNGTKCQPYWE	292
CACNA1B	------------------------------>V<--GDFPCGKEAPA-RL-C-EGDTECREYWP	288
CACNA1D	------------------------------>E<--DPAPCAFSGNGR-Q-CTANGTECRSGWV	338
CACNA1E	------------------------------>D<--PPHPCGVQG------C-PAGYEC-KDWI	283
CACNA1F	------------------------------>E<--DPSPCASSGSGR-A-CTLNQTECRGRWP	304
CACNA1G	CRSVPTLRGD---GGGGPPCG-LDYEAYNS>-<--------SSNTTC-VNWNQYYTNCSAGEH	328
CACNA1H	CSHIPGRRE------LRMPCT-LGWEAYTQ>P<--QAEGVGAARNAC-INWNQYYNVCRSGDS	352
CACNA1I	CHEIPPLKE------QGRECCLSKDDVYDF>G<--AGRQDLNASGLC-VNWNRYYNVCRTGSA	331
CACNA1S	------------------------------>E<--EPSPCARTGSGR-R-CTINGSECRGGWP	266
SCN10A	--------Y------S-SHRK-PDIYINKR>G<TSDPLLCGNGSDSG-H-C-PDGYICLKTSD	330
SCN11A	--------------PE---AY-DHCFEKKE>N<SPEFKMCGIWMGNS-A-C-SIQYECKHTKI	333
SCN1A	----ETVFEF---DWKSYIQD-SRYHYFLE>G<FLDALLCGNSSDAG-Q-C-PEGYMCVKAGR	356
SCN2A	----RTVSIF---NWDEYIED-KSHFYFLE>G<QNDALLCGNSSDAG-Q-C-PEGYICVKAGR	358
SCN3A	----VTMSTF---NWKDYIGD-DSHFYVLD>G<QKDPLLCGNGSDAG-Q-C-PEGYICVKAGR	357
SCN4A	HASWATNDTF---DWDAYISD-EGNFYFLE>G<SNDALLCGNSSDAG-H-C-PEGYECIKTGR	380
SCN5A	----VEADGLVWESLDLYLSD-PENYLLKN>G<TSDVLLCGNSSDAG-T-C-PEGYRCLKAGE	346
SCN7A	----RTG-------NPYYIRE-TENFYYLE>G<ERYALLCGNRTDAG-Q-C-PEGYVCVKAGI	327
SCN8A	----NGTKGF---DWEEYINN-KTNFYTVP>G<MLEPLLCGNSSDAG-Q-C-PEGYQCMKAGR	344
SCN9A	----IMNTLE---SEEDF----RKYFYYLE>G<SKDALLCGFSTDSG-Q-C-PEGYTCVKIGR	335
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 311 for CACNA1C.