Paralogue Annotation for CACNA1C residue 317

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 317
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 317

No paralogue variants have been mapped to residue 317 for CACNA1C.



CACNA1C----------------------D--DPSPC>A<LETGHGRQ-CQN-GTVCKPGWDGPKHGITN345
CACNA1A----------------------E--SPAPC>G<TEEPA-RT-C-PNGTKCQPYWEGPNNGITQ300
CACNA1B----------------------V--GDFPC>G<KEAPA-RL-C-EGDTECREYWPGPNFGITN296
CACNA1D----------------------E--DPAPC>A<FSGNGR-Q-CTANGTECRSGWVGPNGGITN346
CACNA1E----------------------D--PPHPC>G<VQG------C-PAGYEC-KDWIGPNDGITQ291
CACNA1F----------------------E--DPSPC>A<SSGSGR-A-CTLNQTECRGRWPGPNGGITN312
CACNA1GGD---GGGGPPCG-LDYEAYNS-------->-<SSNTTC-VNWNQYYTNCSAGEHNPFKGAIN336
CACNA1HE------LRMPCT-LGWEAYTQP--QAEGV>G<AARNAC-INWNQYYNVCRSGDSNPHNGAIN360
CACNA1IE------QGRECCLSKDDVYDFG--AGRQD>L<NASGLC-VNWNRYYNVCRTGSANPHKGAIN339
CACNA1S----------------------E--EPSPC>A<RTGSGR-R-CTINGSECRGGWPGPNHGITH274
SCN10AY------S-SHRK-PDIYINKRGTSDPLLC>G<NGSDSG-H-C-PDGYICLKTSDNPDFNYTS338
SCN11A------PE---AY-DHCFEKKENSPEFKMC>G<IWMGNS-A-C-SIQYECKHTKINPDYNYTN341
SCN1AEF---DWKSYIQD-SRYHYFLEGFLDALLC>G<NSSDAG-Q-C-PEGYMCVKAGRNPNYGYTS364
SCN2AIF---NWDEYIED-KSHFYFLEGQNDALLC>G<NSSDAG-Q-C-PEGYICVKAGRNPNYGYTS366
SCN3ATF---NWKDYIGD-DSHFYVLDGQKDPLLC>G<NGSDAG-Q-C-PEGYICVKAGRNPNYGYTS365
SCN4ATF---DWDAYISD-EGNFYFLEGSNDALLC>G<NSSDAG-H-C-PEGYECIKTGRNPNYGYTS388
SCN5AGLVWESLDLYLSD-PENYLLKNGTSDVLLC>G<NSSDAG-T-C-PEGYRCLKAGENPDHGYTS354
SCN7A------NPYYIRE-TENFYYLEGERYALLC>G<NRTDAG-Q-C-PEGYVCVKAGINPDQGFTN335
SCN8AGF---DWEEYINN-KTNFYTVPGMLEPLLC>G<NSSDAG-Q-C-PEGYQCMKAGRNPNYGYTS352
SCN9ALE---SEEDF----RKYFYYLEGSKDALLC>G<FSTDSG-Q-C-PEGYTCVKIGRNPDYGYTS343
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A317Ec.950C>A Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.A317Vc.950C>T Putative BenignSIFT:
Polyphen: