Paralogue Annotation for CACNA1C residue 800

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 800
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 800

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AP1008SCardiac conduction diseaseLow2 20025708

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---------------------------GES>K<------------------------------800
CACNA1AH-AREGSLEQPGFWEGEAERGKAGDPHRRH>V<HRQGGSRESRSGSPRTG------ADGEHRR958
CACNA1BRPHRSHSKEAAGPPEARSERGR-------G>P<GPEGGRRHHRRGSPEEA------AEREPRR935
CACNA1D------------------------------>-<------------------------------
CACNA1EG-NCDPTQQEAGGGEAVVTFED-------->-<--RARHRQSQRRSRHRRVRTEGKESSSASR938
CACNA1F------------------------------>-<------------------------------
CACNA1G------SLGRA-----P------------->-<---SLKRRSPSGERRSL------LSG----1134
CACNA1H------SLGRA-----P------------->-<---SLKRRGQCGERESL------LSG----1169
CACNA1I------SLKHK-----P------------->-<---------PSAEHESL------LSA----1009
CACNA1S------------------------------>-<------------------------------
SCN10A------DFIAN------------------->-<--PTVWVSVPIAEGESD------LDD----1008
SCN11A------------------------------>-<-----TWLAPLAEEEDD------VEF----928
SCN1A------SFINN------------------->-<--PSLTVTVPIAVGESD------FEN----1126
SCN2A------SFINN------------------->-<--PSLTVTVPIAVGESD------FEN----1116
SCN3A------SFINN------------------->-<--PSLTVTVPIAVGESD------FEN----1114
SCN4A------NFINN------------------->-<--PYLTIQVPIASEESD------LEM----935
SCN5A------------------------------><-----PVCVPIAVAESD------TDD----1058
SCN7A------SLIPS------------------->-<--PSVSETVPIASGESD------IEN----847
SCN8A------SFINN------------------->-<--PNLTVRVPIAVGESD------FEN----1107
SCN9A------SFIHN------------------->-<--PSLTVTVPIAPGESD------LEN----1089
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K800Rc.2399A>G Putative BenignSIFT: tolerated
Polyphen: benign
p.K800Qc.2398A>C Putative BenignSIFT:
Polyphen: