Paralogue Annotation for CACNA1C residue 258

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 258
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 258

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AV240MLong QT syndromeMedium9 19716085, 24349418

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.



CACNA1CGAGFDVKALRAFRVLRPLRLVSGVPSLQVV>L<NSIIKAMVPLLHIALLVLFVIIIYAIIGLE288
CACNA1A----DLRTLRAVRVLRPLKLVSGIPSLQVV>L<KSIMKAMIPLLQIGLLLFFAILIFAIIGLE246
CACNA1B----DLRTLRAVRVLRPLKLVSGIPSLQVV>L<KSIMKAMVPLLQIGLLLFFAILMFAIIGLE243
CACNA1DSGGFDVKALRAFRVLRPLRLVSGVPSLQVV>L<NSIIKAMVPLLHIALLVLFVIIIYAIIGLE291
CACNA1E-THVDLRTLRAVRVLRPLKLVSGIPSLQIV>L<KSIMKAMVPLLQIGLLLFFAILMFAIIGLE241
CACNA1FPGGFDVKALRAFRVLRPLRLVSGVPSLHIV>L<NSIMKALVPLLHIALLVLFVIIIYAIIGLE257
CACNA1G--NVSFSAVRTVRVLRPLRAINRVPSMRIL>V<TLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ231
CACNA1H--NVSLSAIRTVRVLRPLRAINRVPSMRIL>V<TLLLDTLPMLGNVLLLCFFVFFIFGIVGVQ250
CACNA1I--NINLSAIRTVRVLRPLKAINRVPSMRIL>V<NLLLDTLPMLGNVLLLCFFVFFIFGIIGVQ229
CACNA1SGAGLDVKALRAFRVLRPLRLVSGVPSLQVV>L<NSIFKAMLPLFHIALLVLFMVIIYAIIGLE216
SCN10A----GISGLRTFRVLRALKTVSVIPGLKVI>V<GALIHSVKKLADVTILTIFCLSVFALVGLQ266
SCN11A---IKLLPLRTFRVFRALKAISVVSRLKVI>V<GALLRSVKKLVNVIILTFFCLSIFALVGQQ273
SCN1A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ267
SCN2A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ268
SCN3A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ267
SCN4A----NISALRTFRVLRALKTITVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALVGLQ270
SCN5A----NLSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLADVMVLTVFCLSVFALIGLQ270
SCN7A----FIPTLQTARTLRILKIIPLNQGLKSL>V<GVLIHCLKQLIGVIILTLFFLSIFSLIGMG257
SCN8A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ271
SCN9A----NVSALRTFRVLRALKTISVIPGLKTI>V<GALIQSVKKLSDVMILTVFCLSVFALIGLQ265
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 258 for CACNA1C.