Paralogue Annotation for CACNA1C residue 1639

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1639
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to CACNA1C residue 1639

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AQ1937RGeneralised epilepsy with febrile seizures plus 2Low3 27236449

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.



CACNA1CEVTVGKFYATFLIQEYF-RKFKKRKE--QG>L<V-GK--PS--------QRNALS-L-QAGLR1656
CACNA1ADLTVGKIYAAMMIMEYY-RQSKAKK--LQA>M<R-E---EQDRTPLMFQRMEPPS------PT1997
CACNA1BEMTVGKVYAALMIFDFY-KQNKTTRDQMQQ>A<PGG---LS----QMGPVSLFHP------LK1895
CACNA1DEVTVGKFYATFLIQDYF-RKFKKRKE--QG>L<V-GK-YPA--------KNTTIA-L-QAGLR1665
CACNA1EDLTVGKIYAAMMIMDYY-KQSKVKKQ--RQ>Q<L-E---EQ-KNAPMFQRMEPSS------LP1908
CACNA1FEVTVGKFYATFLIQDYF-RKFRRRKE--KG>L<L-GN-DAA--------PSTSSA-L-QAGLR1622
CACNA1GDP-----QIPLAEMEAL-SLTSEIVS--EP>S<C------------------SLA------LT2001
CACNA1HPR-----PLQEVEMETYGAGTPLGSV--AS>V<H-SP-PAE-SCASLQIPLAVSS------PA1989
CACNA1IKCHHDKQEVQLAETEAF-SLNSDRSS--SI>L<L-GD-DLS-LEDPTACPPGRKD------SK1888
CACNA1SEVTVGKFYATFLIQEHF-RKFMKRQE--EY>Y<--GY--RP--------KKDIVQ-I-QAGLR1560
SCN10AQEDIS----ATVIQKAY-RSYVLHRS--MA>L<S-NTPCVP---------RAEEE---AASLP1890
SCN11AEEERG----AAIIQKAF-RKYMMKVT--KG>D<Q-G-D--Q----------------------1759
SCN1AQEEVS----AVIIQRAY-RRHLLKRT--VK>Q<A-SFTYNK---------NKIKG--GANLLI1955
SCN2AQEEVS----AIIIQRAY-RRYLLKQK--VK>K<V-SSIYKK---------DKGKE--CDGTPI1945
SCN3AQEEVS----AAIIQRNF-RCYLLKQR--LK>N<I-SSNYNK---------EAIKG--RIDLPI1940
SCN4AHEEVC----AIKIQRAY-RRHLLQRS--MK>Q<A-SYMYRH---------SHDGS--GDDAPE1767
SCN5AHEEVS----AMVIQRAF-RRHLLQRS--LK>H<A-SFLFRQ---------QAGSGLSEEDAPE1943
SCN7AQEAVS----ATIIQRAY-KNYRLRRN--DK>N<T-SDIHMI---------DGDR----DVHAT1663
SCN8AQEEVS----AVVLQRAY-RGHLARRG--FI>C<------------------------------1917
SCN9AQEDVS----ATVIQRAY-RRYRLRQN--VK>N<I-SSIYIK---------DGDRD---DDLLN1917
cons                              > <                              

See full Alignment of Paralogues


Known Variants in CACNA1C

There are currently no reported variants at residue 1639 for CACNA1C.