Paralogue Annotation for CACNA1C residue 659

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 659
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 659

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AA863PErythermalgia, primaryMedium9 17135418

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.



CACNA1CKITRYWNSLSNLVASLLNSVRSIASLLLLL>F<LFIIIFSLLGMQLFGGKFNFD-E-------681
CACNA1AKVTKYWASLRNLVVSLLNSMKSIISLLFLL>F<LFIVVFALLGMQLFGGQFNFD-E-------644
CACNA1BKVTKYWSSLRNLVVSLLNSMKSIISLLFLL>F<LFIVVFALLGMQLFGGQFNFQ-D-------640
CACNA1DKVTRHWTSLSNLVASLLNSMKSIASLLLLL>F<LFIIIFSLLGMQLFGGKFNFD-E-------700
CACNA1EKITKYWASLRNLVVSLMSSMKSIISLLFLL>F<LFIVVFALLGMQLFGGRFNFN-D-------633
CACNA1FKVTRHWASLSNLVASLLNSMKSIASLLLLL>F<LFIIIFSLLGMQLFGGKFNFD-Q-------686
CACNA1GKLVRFLPALQRQLVVLMKTMDNVATFCMLL>M<LFIFIFSILGMHLFGCKFASER--------895
CACNA1HKLVRFLPALRRQLVVLVKTMDNVATFCTLL>M<LFIFIFSILGMHLFGCKFSLKTD-------946
CACNA1IKLVRFMPALRRQLVVLMKTMDNVATFCMLL>M<LFIFIFSILGMHIFGCKFSLRTD-------793
CACNA1SKITKYWTSLSNLVASLLNSIRSIASLLLLL>F<LFIVIFALLGMQLFGGRYDFE-D-------589
SCN10AKLAKSWPTLNTLIKIIGNSVGALGNLTIIL>A<IIVFVFALVGKQLLGENYRNN-RKN----I820
SCN11AKLAKSWPTLNTLIKIIGNSVGALGSLTVVL>V<IVIFIFSVVGMQLFGRSFNSQ-KSPKLCNP738
SCN1AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKDC-VCK----I923
SCN2AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I914
SCN3AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I915
SCN4AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I733
SCN5AKLAKSWPTLNTLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKNYSEL-RDS----D872
SCN7AKLGKYWPTFQILMWSLSNSWVALKDLVLLL>F<TFIFFSAAFGMKLFGKNYEEF-VCH----I660
SCN8AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I908
SCN9AKLAKSWPTLNMLIKIIGNSVGALGNLTLVL>A<IIVFIFAVVGMQLFGKSYKEC-VCK----I888
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 659 for CACNA1C.