Paralogue Annotation for CACNA1C residue 1717

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1717
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1717

No paralogue variants have been mapped to residue 1717 for CACNA1C.



CACNA1CFRRAGGLFGNHV-SYYQSDG--------RS>A<FPQTFT---T-------QRPLHINKAGSS-1736
CACNA1AQSVEMREMGRDG-YSDSEHYLPMEGQGRAA>S<MPRLPA------------------------2099
CACNA1BLAVDVQMQSITRRGPDGEPQPGLESQGRAA>S<MPRLAA------------------------2008
CACNA1DFKRNGALLGNHV-NHVNSDR--------RD>S<LQQTNT---T-------HRPLHVQRPSIPP1740
CACNA1ESELKSVQPSNHG-IYLPSDTQEHAGSGRAS>S<MPRLTV------------------------2006
CACNA1FETNKATMVSQPS-AR---RG--------SG>I<SVSLPVGDRL-------PDSLSFG---P--1695
CACNA1GWGLPKA--------------Q----SGSVL>S<VHSQP-----------ADT-----------2089
CACNA1HASVRT--------------RK----HTFGQ>R<CVSSRP---AAP----GGE-----------2089
CACNA1IAEFFHPAVSASQ-KGPEKGTG----TGTLP>K<IALQGS---WASLRSPRVN-----------2003
CACNA1SFRRTGGLFGQVD-NFL--ER--------TN>S<LPPVMA---N-------QRPLQFAEIE---1634
SCN10AL-PDKS------------------------>-<------------------------------1909
SCN11AS-PLQT------------------------>-<------------------------------1772
SCN1A--TEKT------------------------>-<------------------------------1973
SCN2A--PEKT------------------------>-<------------------------------1963
SCN3A--PEKT------------------------>-<------------------------------1958
SCN4A--PSPE------------------------>-<------------------------------1793
SCN5AG-PPSS------------------------>-<------------------------------1965
SCN7A------------------------------>-<------------------------------
SCN8A--REKK------------------------>-<------------------------------1935
SCN9A--PEKT------------------------>-<------------------------------1935
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1717Tc.5149G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.A1717Vc.5150C>T Putative BenignSIFT: tolerated
Polyphen: benign
p.A1717Gc.5150C>G BenignSIFT: deleterious
Polyphen: benign