Paralogue Annotation for CACNA1C residue 476

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 476
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to CACNA1C residue 476

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AE655KAtrial fibrillationLow3 18378609

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----------------E----------SVN>T<ENVAG-G-D----IEGEN-CG---------490
CACNA1A----------------D----------LLN>P<EEAED-QLA----DIA-S-VG---------450
CACNA1B----------------D----------LIH>A<EEGED-RFA----DLC-A-VG---------446
CACNA1D----------------E----------SVN>T<ENVSG-EGE----NRG-C-CGSLWCWWR--497
CACNA1E----------------E----------AMT>R<DSSDE-HCV----DIS-S-VG---------439
CACNA1F----------------T----------RS->T<HSTSSHASL----P-A-SDTGSMTETQG--483
CACNA1G-----SC--KISSPCLK----------ADS>G<ACGPD-SCP----YCA-R-AG-----AG--676
CACNA1HHLSGLSV--PCPLPSPP----------AGT>L<TCELK-SCP----YCT-R-AL-----ED-P710
CACNA1I------------------------------>-<--DPA-SCP----CCQ-H-ED-----GR-R563
CACNA1S----------------E----------SLY>-<EI----------------------------401
SCN10A-------------GAVDVSAFD---AGQKK>T<FLSAE-YLDEPFRAQR-A-MSVVSIITSV-620
SCN11A-----------------------KRLSQNL>S<LDHFD-EHGDPLQRQR-A-LSAVSILTIT-532
SCN1A----VIIDKPATDDNGTTTETEMRKRRSSS>F<HVSMD-FLEDPSQRQR-A-MSIASILTNT-723
SCN2A---------------GTTTETEIRKRRSSS>Y<HVSMD-LLEDPTSRQR-A-MSIASILTNT-714
SCN3A---------------GTTTETEVRKRRLSS>Y<QISME-MLEDSSGRQR-A-VSIASILTNT-715
SCN4A------------------------------>-<------E---KGAPRQ-S-SSGDSGISDA-533
SCN5A----VMLEHPP--DTTTPSEEPGGPQMLTS>Q<APCVD-GFEEPGARQR-A-LSAVSVLTSA-672
SCN7A-----------------TIQIEMKKRSPIS>T<DTSLD-VLEDATLRHK--------------461
SCN8A---------------A-TTEVEIKKKGPGS>L<LVSMD-QLASYGRKDR-I-NSIMSVVTNTL708
SCN9A----G-----------TTNQIH-KKRRCSS>Y<LLSED-MLNDPNLRQR-A-MSRASILTNT-688
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 476 for CACNA1C.