Paralogue Annotation for CACNA1C residue 638

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 638
Reference Amino Acid: S - Serine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 638

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HR902WAutism spectrum disorder ?Medium9 16754686

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.



CACNA1CTKIMSPLGISVLRCVRLLRIFKITRYWNSL>S<NLVASLLNSVRSIASLLLLLFLFIIIFSLL668
CACNA1AIKPGTSFGISVLRALRLLRIFKVTKYWASL>R<NLVVSLLNSMKSIISLLFLLFLFIVVFALL631
CACNA1BIKPGSSFGISVLRALRLLRIFKVTKYWSSL>R<NLVVSLLNSMKSIISLLFLLFLFIVVFALL627
CACNA1DLEIMSPLGISVFRCVRLLRIFKVTRHWTSL>S<NLVASLLNSMKSIASLLLLLFLFIIIFSLL687
CACNA1EFRPGTSFGISVLRALRLLRIFKITKYWASL>R<NLVVSLMSSMKSIISLLFLLFLFIVVFALL620
CACNA1FVGAMQPLGISVLRCVRLLRIFKVTRHWASL>S<NLVASLLNSMKSIASLLLLLFLFIIIFSLL673
CACNA1GGG-----GLSVLRTFRLMRVLKLVRFLPAL>Q<RQLVVLMKTMDNVATFCMLLMLFIFIFSIL882
CACNA1HDG-----GLSVLRTFRLLRVLKLVRFLPAL>R<RQLVVLVKTMDNVATFCTLLMLFIFIFSIL932
CACNA1IDG-----GLSVLRTFRLLRVLKLVRFMPAL>R<RQLVVLMKTMDNVATFCMLLMLFIFIFSIL779
CACNA1SSGAMTPLGISVLRCIRLLRIFKITKYWTSL>S<NLVASLLNSIRSIASLLLLLFLFIVIFALL576
SCN10AKG-----SLSVLRSFRLLRVFKLAKSWPTL>N<TLIKIIGNSVGALGNLTIILAIIVFVFALV804
SCN11ALQKR---SWPFLRSFRVLRVFKLAKSWPTL>N<TLIKIIGNSVGALGSLTVVLVIVIFIFSVV718
SCN1AVE-----GLSVLRSFRLLRVFKLAKSWPTL>N<MLIKIIGNSVGALGNLTLVLAIIVFIFAVV907
SCN2AVE-----GLSVLRSFRLLRVFKLAKSWPTL>N<MLIKIIGNSVGALGNLTLVLAIIVFIFAVV898
SCN3AVE-----GLSVLRSFRLLRVFKLAKSWPTL>N<MLIKIIGNSVGALGNLTLVLAIIVFIFAVV899
SCN4AVQ-----GLSVLRSFRLLRVFKLAKSWPTL>N<MLIKIIGNSVGALGNLTLVLAIIVFIFAVV717
SCN5AMS-----NLSVLRSFRLLRVFKLAKSWPTL>N<TLIKIIGNSVGALGNLTLVLAIIVFIFAVV856
SCN7AVA-----GMALLRLFRMLRIFKLGKYWPTF>Q<ILMWSLSNSWVALKDLVLLLFTFIFFSAAF644
SCN8AVE-----GLSVLRSFRLLRVFKLAKSWPTL>N<MLIKIIGNSVGALGNLTLVLAIIVFIFAVV892
SCN9AVE-----GLSVLRSFRLLRVFKLAKSWPTL>N<MLIKIIGNSVGALGNLTLVLAIIVFIFAVV872
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 638 for CACNA1C.