Paralogue Annotation for CACNA1C residue 661

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 661
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 661

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN5AI849NSudden unexplained deathMedium9 24631775

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.



CACNA1CTRYWNSLSNLVASLLNSVRSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-E---------681
CACNA1ATKYWASLRNLVVSLLNSMKSIISLLFLLFL>F<IVVFALLGMQLFGGQFNFD-E---------644
CACNA1BTKYWSSLRNLVVSLLNSMKSIISLLFLLFL>F<IVVFALLGMQLFGGQFNFQ-D---------640
CACNA1DTRHWTSLSNLVASLLNSMKSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-E---------700
CACNA1ETKYWASLRNLVVSLMSSMKSIISLLFLLFL>F<IVVFALLGMQLFGGRFNFN-D---------633
CACNA1FTRHWASLSNLVASLLNSMKSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-Q---------686
CACNA1GVRFLPALQRQLVVLMKTMDNVATFCMLLML>F<IFIFSILGMHLFGCKFASER---------D896
CACNA1HVRFLPALRRQLVVLVKTMDNVATFCTLLML>F<IFIFSILGMHLFGCKFSLKTD--------T947
CACNA1IVRFMPALRRQLVVLMKTMDNVATFCMLLML>F<IFIFSILGMHIFGCKFSLRTD--------T794
CACNA1STKYWTSLSNLVASLLNSIRSIASLLLLLFL>F<IVIFALLGMQLFGGRYDFE-D---------589
SCN10AAKSWPTLNTLIKIIGNSVGALGNLTIILAI>I<VFVFALVGKQLLGENYRNN-RKN----I-S821
SCN11AAKSWPTLNTLIKIIGNSVGALGSLTVVLVI>V<IFIFSVVGMQLFGRSFNSQ-KSPKLCNPTG740
SCN1AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKDC-VCK----I-A924
SCN2AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-S915
SCN3AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N916
SCN4AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-A734
SCN5AAKSWPTLNTLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKNYSEL-RDS----D-S873
SCN7AGKYWPTFQILMWSLSNSWVALKDLVLLLFT>F<IFFSAAFGMKLFGKNYEEF-VCH----I-D661
SCN8AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N909
SCN9AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N889
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 661 for CACNA1C.