Paralogue Annotation for CACNA1C residue 1700

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1700
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1700

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AS1964FBrugada syndrome ?Low2 21126620, 26656175

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.



CACNA1C-------------------ASED-DIFRRA>G<GLFGNHV-SYYQSDG--------RSAFPQT1721
CACNA1AMFQKTGTWSPEQGPPTDMPNSQP-NSQSVE>M<REMGRDG-YSDSEHYLPMEGQGRAASMPRL2097
CACNA1BAPHEA-RPPLERGHSTEIPVGRS-GALAVD>V<QMQSITRRGPDGEPQPGLESQGRAASMPRL2006
CACNA1D-------------------EEED-DVFKRN>G<ALLGNHV-NHVNSDR--------RDSLQQT1724
CACNA1EIFQLACMDPADDGQFQERQSLEP-EVSELK>S<VQPSNHG-IYLPSDTQEHAGSGRASSMPRL2004
CACNA1F-------------------EDEK-DLETNK>A<TMVSQPS-AR---RG--------SGISVSL1681
CACNA1GTHSLPNDSYMCRHGSTAEGPLGH-RGWGLP>K<A--------------Q----SGSVLSVHSQ2085
CACNA1HPGEKTPVRPVTQGGSLQSPPRSP-RPASVR>T<--------------RK----HTFGQRCVSS2081
CACNA1ILKHDSSQAPPSPFSPDASSPLLP-MPAEFF>H<PAVSASQ-KGPEKGTG----TGTLPKIALQ1991
CACNA1S-------------------AMEE-GIFRRT>G<GLFGQVD-NFL--ER--------TNSLPPV1621
SCN10A-------------------NC-V---L-PD>K<S-----------------------------1909
SCN11A-------------------PH-----S-PL>Q<T-----------------------------1772
SCN1A-------------------NS-I-----TE>K<T-----------------------------1973
SCN2A-------------------NS-T-----PE>K<T-----------------------------1963
SCN3A-------------------NS-T-----PE>K<T-----------------------------1958
SCN4A-------------------NSSS-----PS>P<E-----------------------------1793
SCN5A-------------------NF-SRPLG-PP>S<S-----------------------------1965
SCN7A------------------------------>-<------------------------------
SCN8A-------------------GT-H-----RE>K<K-----------------------------1935
SCN9A-------------------NS-S-----PE>K<T-----------------------------1935
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1700Sc.5098G>A Putative BenignSIFT:
Polyphen: