Paralogue Annotation for CACNA1C residue 1375

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1375
Reference Amino Acid: A - Alanine
Protein Domain: TM domain 4


Paralogue Variants mapped to CACNA1C residue 1375

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1672YBrugada syndromeMedium9 20129283, 24136861
SCN1AA1685DMyoclonic epilepsy of infancyHigh9 12566275, 22525008
SCN1AA1685VFebrile seizuresHigh9 11524484, 14672992, 22525008

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.



CACNA1CGIRTLLWTFIKSFQALPYVALLIVMLFFIY>A<VIGMQVFGKIALND---TTE-----INRNN1397
CACNA1ATIRILLWTFVQSFKALPYVCLLIAMLFFIY>A<IIGMQVFGNIGIDVEDEDSDEDEFQITEHN1737
CACNA1BTIRILLWTFVQSFKALPYVCLLIAMLFFIY>A<IIGMQVFGNIALDD---DTS-----INRHN1637
CACNA1DGIRTLLWTFIKSFQALPYVALLIAMLFFIY>A<VIGMQMFGKVAMRD---NNQ-----INRNN1407
CACNA1ETIRILLWTFVQSFKALPYVCLLIAMLFFIY>A<IIGMQVFGNIKLDE---ESH-----INRHN1644
CACNA1FGIRTLLWTFIKSFQALPYVALLIAMIFFIY>A<VIGMQMFGKVALQD---GTQ-----INRNN1364
CACNA1GGMRALLDTVMQALPQVGNLGLLFMLLFFIF>A<ALGVELFGDLECDET---HP--CEGLGRHA1783
CACNA1HGMRALLDTVVQALPQVGNLGLLFMLLFFIY>A<ALGVELFGRLECSED---NP--CEGLSRHA1789
CACNA1IGMRALLDTVVQALPQVGNLGLLFMLLFFIY>A<ALGVELFGKLVCNDE---NP--CEGMSRHA1659
CACNA1SGVRTLLWTFIKSFQALPYVALLIVMLFFIY>A<VIGMQMFGKIALVD---GTQ-----INRNN1304
SCN10AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>S<IFGMSSFPHVRW-----EAG-----IDDMF1642
SCN11AGIRTLLFALMMSLPSLFNIGLLLFLIMFIY>A<ILGMNWFSKVNP-----ESG-----IDDIF1532
SCN1AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKR-----EVG-----IDDMF1705
SCN2AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKR-----EVG-----IDDMF1695
SCN3AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKK-----EAG-----IDDMF1690
SCN4AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>S<IFGMSNFAYVKK-----ESG-----IDDMF1517
SCN5AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>S<IFGMANFAYVKW-----EAG-----IDDMF1692
SCN7AVFHNLMLPLMLSLPALLNIILLIFLVMFIY>A<VFGMYNFAYVKK-----EAG-----INDVS1415
SCN8AGIRTLLFALMMSLPALFNIGLLLFLVMFIF>S<IFGMSNFAYVKH-----EAG-----IDDMF1686
SCN9AGIRTLLFALMMSLPALFNIGLLLFLVMFIY>A<IFGMSNFAYVKK-----EDG-----INDMF1668
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1375Vc.4124C>T Putative BenignSIFT:
Polyphen: