Paralogue Annotation for CACNA1C residue 1656

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1656
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1656

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1955TAutism ?Low1 12610651, 22011963

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.



CACNA1CLV-GK--PS--------QRNALS-L-QAGL>R<TL-H-DIGPE-IRRA-------ISG----D1672
CACNA1AMR-E---EQDRTPLMFQRMEPPS------P>T<Q-------EG-GP-G-------QNALPS-T2010
CACNA1BAPGG---LS----QMGPVSLFHP------L>K<ATLE-QT-QPAVLRGARVFLR-QKS--S-T1919
CACNA1DLV-GK-YPA--------KNTTIA-L-QAGL>R<TL-H-DIGPE-IRRA-------ISC----D1681
CACNA1EQL-E---EQ-KNAPMFQRMEPSS------L>P<Q-------EI-IA-N-------AKALPY-L1921
CACNA1FLL-GN-DAA--------PSTSSA-L-QAGL>R<SL-Q-DLGPE-MRQA-------LTC----D1638
CACNA1GSC------------------SLA------L>T<D-------DSLP--------DDMHTLLLSA2016
CACNA1HVH-SP-PAE-SCASLQIPLAVSS------P>A<R-------SGEPLHALSPRGTARSPSLSRL2012
CACNA1ILL-GD-DLS-LEDPTACPPGRKD------S>K<G-------ELDP-----PEPMRVGDLGECF1906
CACNA1SY--GY--RP--------KKDIVQ-I-QAGL>R<TI-EEEAAPE-ICRT-------VSG----D1577
SCN10ALS-NTPCVP---------RAEEE---AASL>P<DEGF-VAFTA--------------------1899
SCN11ADQ-G-D--Q--------------------->-<-NDL-----E--------------------1763
SCN1AQA-SFTYNK---------NKIKG--GANLL>I<KEDM-IIDRI--------------------1964
SCN2AKV-SSIYKK---------DKGKE--CDGTP>I<KEDT-LIDKL--------------------1954
SCN3ANI-SSNYNK---------EAIKG--RIDLP>I<KQDM-IIDKL--------------------1949
SCN4AQA-SYMYRH---------SHDGS--GDDAP>E<KEGL-LANTM-SKMY---------------1780
SCN5AHA-SFLFRQ---------QAGSGLSEEDAP>E<REGL-IAYVM--------------------1952
SCN7ANT-SDIHMI---------DGDR----DVHA>T<KEGA-YFDKA--------------------1672
SCN8AC----------------------------->-<KKTT-SNKLE--------------------1926
SCN9ANI-SSIYIK---------DGDRD---DDLL>N<KKDM-AFDNV--------------------1926
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1656Gc.4966C>G Putative BenignSIFT:
Polyphen: