Paralogue Annotation for CACNA1C residue 1996

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1996
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1996

No paralogue variants have been mapped to residue 1996 for CACNA1C.



CACNA1CPQPVPTLRLEGVESSEKLNSSFPSIHCGSW>A<ETTPGGGGSSAARRVRPVSLMVPSQA---G2023
CACNA1ARARARDQRWS-------------------->-<------------------------------2247
CACNA1BLTPRPSITYKTANS----S--PIHFA---->-<---------------GAQTSLPAFSP---G2227
CACNA1DPCYTPLIQVEQSEALDQVNGSLPSLHRSSW>Y<TDEP----DISYRTFTPASLTVPSSF---R2068
CACNA1EPKPRPLLSYSSLIR----H--AGSIS---->-<---------------PPADGSEEGSP---L2195
CACNA1FLLYAPLLLVEEGAAGEGYLGRS-------->-<--------SGPLRTFT--CLHVPGTH---S1885
CACNA1GPPSPRDLKKCYSVEAQSCQRRPTSWLDEQR>R<HSIAVSCLDSGSQPHLGTDPSNLGG---QP2294
CACNA1H----RDLRRLYSVDAQGFLDKPGR-ADEQW>R<PSAELGSGEP-------GEAKAWGP---EA2175
CACNA1I----PAARRRLSLRGRGLFSLRG--LRAHQ>R<SHSSGGSTSPGCTHHDSMDPSDEEGRGGAG2115
CACNA1S-------RVESSMPEDRKSSTPGSLHE--->-<-ETP----------------HSRSTR---E1774
SCN10A-S---S--SIQNED-------E-------->-<------------------------------1945
SCN11A-----G--KVHC------------------>-<------------------------------1790
SCN1A-Q---E--GKDEKA---------------->-<------------------------------2006
SCN2A-K---D--KSEKED---------------->-<------------------------------1995
SCN3A-K---D--KPEKES---------------->-<------------------------------1990
SCN4A-P---A--PPPGQT---------------->-<------------------------------1826
SCN5A-S---D--YSHSED-------L-------->-<------------------------------2001
SCN7A-----S--P--------------------->-<------------------------------1677
SCN8A-E---G--RRERAK---------------->-<------------------------------1970
SCN9A-Q---D--RTEKED---------------->-<------------------------------1967
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1996Sc.5986G>T Putative BenignSIFT: tolerated
Polyphen: benign
p.A1996Vc.5987C>T Putative BenignSIFT:
Polyphen: