Paralogue Annotation for CACNA1C residue 808

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 808
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to CACNA1C residue 808

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4Ap.P875Shyperkalemic periodic paralysisLow1

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-----------------------EEKIELK>S<IT---------------------ADG----813
CACNA1ARSGSPRTG------ADGEHRRHRAHRR--P>G<EEGP-EDKAE--RRARHREGSRPARGG-EG992
CACNA1BRRGSPEEA------AEREPRRHRAHRH--Q>D<PSKE-CAGAKGERRARHRG-G--PR---AG966
CACNA1D-----------------------------N>Q<IA---------------------NSD----820
CACNA1EQRRSRHRRVRTEGKESSSASRSRSASQERS>L<DEAM-PTEGE--KDHELRGNHG-A----KE970
CACNA1F------------------------------>-<------------------------------
CACNA1GPSGERRSL------LSG------------E>G<QESQ-DEEES--SEEERASPAG----SD--1157
CACNA1HQCGERESL------LSG------------E>G<KGST-DDEAE--DGRAAPGPRA----TP--1192
CACNA1IPSAEHESL------LSA------------E>R<GGGARVCE----VAADEGPPRAAPL-HTPH1036
CACNA1S-----------------------------E>Q<KP---------------------KGE----712
SCN10APIAEGESD------LDD------------L>E<DDGGEDAQ----SFQQEVIPKGQQE-QLQQ1035
SCN11APLAEEEDD------VEF------------S>G<ED----------------------------932
SCN1APIAVGESD------FEN------------L>N<TE----------------------------1130
SCN2APIAVGESD------FEN------------L>N<TE----------------------------1120
SCN3APIAVGESD------FEN------------L>N<TE----------------------------1118
SCN4APIASEESD------LEM------------P>T<EE----------------------------939
SCN5APIAVAESD------TDD------------Q>E<ED----------------------------1062
SCN7APIASGESD------IEN------------L>D<NK----------------------------851
SCN8APIAVGESD------FEN------------L>N<TE----------------------------1111
SCN9APIAPGESD------LEN------------M>N<AE----------------------------1093
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 808 for CACNA1C.