Paralogue Annotation for CACNA1C residue 631

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 631
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 2


Paralogue Variants mapped to CACNA1C residue 631

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AA681DPainful peripheral neuropathyMedium9 24776970

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.



CACNA1CLETILVETKIMSPLGISVLRCVRLLRIFKI>T<RYWNSLSNLVASLLNSVRSIASLLLLLFLF661
CACNA1AFEVIWAVIKPGTSFGISVLRALRLLRIFKV>T<KYWASLRNLVVSLLNSMKSIISLLFLLFLF624
CACNA1BFEVVWAAIKPGSSFGISVLRALRLLRIFKV>T<KYWSSLRNLVVSLLNSMKSIISLLFLLFLF620
CACNA1DTETILVELEIMSPLGISVFRCVRLLRIFKV>T<RHWTSLSNLVASLLNSMKSIASLLLLLFLF680
CACNA1EFEVVWAIFRPGTSFGISVLRALRLLRIFKI>T<KYWASLRNLVVSLMSSMKSIISLLFLLFLF613
CACNA1FLETTLVEVGAMQPLGISVLRCVRLLRIFKV>T<RHWASLSNLVASLLNSMKSIASLLLLLFLF666
CACNA1GWEIVGQQGG-----GLSVLRTFRLMRVLKL>V<RFLPALQRQLVVLMKTMDNVATFCMLLMLF875
CACNA1HWEIVGQADG-----GLSVLRTFRLLRVLKL>V<RFLPALRRQLVVLVKTMDNVATFCTLLMLF925
CACNA1IWEIVGQADG-----GLSVLRTFRLLRVLKL>V<RFMPALRRQLVVLMKTMDNVATFCMLLMLF772
CACNA1SLEILLVESGAMTPLGISVLRCIRLLRIFKI>T<KYWTSLSNLVASLLNSIRSIASLLLLLFLF569
SCN10ALELGVAKKG-----SLSVLRSFRLLRVFKL>A<KSWPTLNTLIKIIGNSVGALGNLTIILAII797
SCN11AADVMNCVLQKR---SWPFLRSFRVLRVFKL>A<KSWPTLNTLIKIIGNSVGALGSLTVVLVIV711
SCN1AVELGLANVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII900
SCN2AMELGLANVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII891
SCN3AMELGLSNVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII892
SCN4AVELGLANVQ-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII710
SCN5AMELGLSRMS-----NLSVLRSFRLLRVFKL>A<KSWPTLNTLIKIIGNSVGALGNLTLVLAII849
SCN7AIELCLANVA-----GMALLRLFRMLRIFKL>G<KYWPTFQILMWSLSNSWVALKDLVLLLFTF637
SCN8AMELSLADVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII885
SCN9AVELFLADVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII865
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 631 for CACNA1C.