Paralogue Annotation for CACNA1C residue 1780

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1780
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1780

No paralogue variants have been mapped to residue 1780 for CACNA1C.



CACNA1C-------SSTGSNANI--NNANNTALGRLP>R<PAG----YPSTVSTVEGHGPPLSPAIR--V1804
CACNA1A-----------------------ENQRRRG>R<PR----------GNNLSTISDTSPMKRSAS2127
CACNA1B-----------------------ETQ---->-<P-----------------VTDASPMKRSIS2024
CACNA1DHNSIGKQVPTSTNANL--NNANMSKAAHGK>R<PSIGNLEHVSENGHHSSHKHDREPQRRSSV1821
CACNA1E-----------------------DPQ---->-<-----------------VVTDPSSMRRSFS2022
CACNA1F-------TPTSSQPSV--PQAGSNTHRRGS>G<------------------------------1723
CACNA1G--------WGTIPKLPPPG---RSPL---->-<-------------AQRPLRRQAAIRTDSLD2142
CACNA1H--------WQPTAEPH-------------->-<------------------------------2118
CACNA1I--------AGSL-QTTLED---SLT----->-<----------------------LSDSP---2042
CACNA1S-------TNPLARANT--NNAN-------->-<------------------------------1665
SCN10A--------PSYESVT--------------->-<------------------------------1925
SCN11A---------CNGDLS--------------->-<------------------------------1779
SCN1A--------PSYDRVT--------------->-<------------------------------1990
SCN2A--------PSYDSVT--------------->-<------------------------------1979
SCN3A--------PSYDSVT--------------->-<------------------------------1974
SCN4A--------PTMGLMP--------------->-<------------------------------1809
SCN5A--------PSYDSVT--------------->-<------------------------------1981
SCN7A------------------------------>-<------------------------------
SCN8A--------PSYDSVT--------------->-<------------------------------1951
SCN9A--------PSYDSVT--------------->-<------------------------------1951
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1780Cc.5338C>T Putative Benignrs371760034SIFT: tolerated
Polyphen: benign
p.R1780Hc.5339G>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ J. 2013 77(7):1799-806. 23575362