Paralogue Annotation for CACNA1C residue 257

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 257
Reference Amino Acid: V - Valine
Protein Domain: TM domain 1


Paralogue Variants mapped to CACNA1C residue 257

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI239VLong QT syndromeMedium9 15176425
SCN9AI234TErythermalgia, primaryMedium9 20385509, 23893323, 26486037

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.



CACNA1CKGAGFDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIIKAMVPLLHIALLVLFVIIIYAIIGL287
CACNA1A-----DLRTLRAVRVLRPLKLVSGIPSLQV>V<LKSIMKAMIPLLQIGLLLFFAILIFAIIGL245
CACNA1B-----DLRTLRAVRVLRPLKLVSGIPSLQV>V<LKSIMKAMVPLLQIGLLLFFAILMFAIIGL242
CACNA1DKSGGFDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIIKAMVPLLHIALLVLFVIIIYAIIGL290
CACNA1E--THVDLRTLRAVRVLRPLKLVSGIPSLQI>V<LKSIMKAMVPLLQIGLLLFFAILMFAIIGL240
CACNA1FKPGGFDVKALRAFRVLRPLRLVSGVPSLHI>V<LNSIMKALVPLLHIALLVLFVIIIYAIIGL256
CACNA1G---NVSFSAVRTVRVLRPLRAINRVPSMRI>L<VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV230
CACNA1H---NVSLSAIRTVRVLRPLRAINRVPSMRI>L<VTLLLDTLPMLGNVLLLCFFVFFIFGIVGV249
CACNA1I---NINLSAIRTVRVLRPLKAINRVPSMRI>L<VNLLLDTLPMLGNVLLLCFFVFFIFGIIGV228
CACNA1SKGAGLDVKALRAFRVLRPLRLVSGVPSLQV>V<LNSIFKAMLPLFHIALLVLFMVIIYAIIGL215
SCN10A-----GISGLRTFRVLRALKTVSVIPGLKV>I<VGALIHSVKKLADVTILTIFCLSVFALVGL265
SCN11A----IKLLPLRTFRVFRALKAISVVSRLKV>I<VGALLRSVKKLVNVIILTFFCLSIFALVGQ272
SCN1A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL266
SCN2A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL267
SCN3A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL266
SCN4A-----NISALRTFRVLRALKTITVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALVGL269
SCN5A-----NLSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLADVMVLTVFCLSVFALIGL269
SCN7A-----FIPTLQTARTLRILKIIPLNQGLKS>L<VGVLIHCLKQLIGVIILTLFFLSIFSLIGM256
SCN8A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL270
SCN9A-----NVSALRTFRVLRALKTISVIPGLKT>I<VGALIQSVKKLSDVMILTVFCLSVFALIGL264
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 257 for CACNA1C.