Paralogue Annotation for SCN5A residue 1943

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1943
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1943

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI1955TAutism ?Low1 12610651, 22011963

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 SCN5A.



SCN5AHA-SFLFRQ---------QAGSGLSEEDAP>E<REGL-IAYVM--------------------1952
SCN1AQA-SFTYNK---------NKIKG--GANLL>I<KEDM-IIDRI--------------------1964
SCN2AKV-SSIYKK---------DKGKE--CDGTP>I<KEDT-LIDKL--------------------1954
SCN3ANI-SSNYNK---------EAIKG--RIDLP>I<KQDM-IIDKL--------------------1949
SCN4AQA-SYMYRH---------SHDGS--GDDAP>E<KEGL-LANTM-SKMY---------------1780
SCN7ANT-SDIHMI---------DGDR----DVHA>T<KEGA-YFDKA--------------------1672
SCN8AC----------------------------->-<KKTT-SNKLE--------------------1926
SCN9ANI-SSIYIK---------DGDRD---DDLL>N<KKDM-AFDNV--------------------1926
SCN10ALS-NTPCVP---------RAEEE---AASL>P<DEGF-VAFTA--------------------1899
SCN11ADQ-G-D--Q--------------------->-<-NDL-----E--------------------1763
CACNA1AMR-E---EQDRTPLMFQRMEPPS------P>T<Q-------EG-GP-G-------QNALPS-T2010
CACNA1BAPGG---LS----QMGPVSLFHP------L>K<ATLE-QT-QPAVLRGARVFLR-QKS--S-T1919
CACNA1CLV-GK--PS--------QRNALS-L-QAGL>R<TL-H-DIGPE-IRRA-------ISG----D1672
CACNA1DLV-GK-YPA--------KNTTIA-L-QAGL>R<TL-H-DIGPE-IRRA-------ISC----D1681
CACNA1EQL-E---EQ-KNAPMFQRMEPSS------L>P<Q-------EI-IA-N-------AKALPY-L1921
CACNA1FLL-GN-DAA--------PSTSSA-L-QAGL>R<SL-Q-DLGPE-MRQA-------LTC----D1638
CACNA1GSC------------------SLA------L>T<D-------DSLP--------DDMHTLLLSA2016
CACNA1HVH-SP-PAE-SCASLQIPLAVSS------P>A<R-------SGEPLHALSPRGTARSPSLSRL2012
CACNA1ILL-GD-DLS-LEDPTACPPGRKD------S>K<G-------ELDP-----PEPMRVGDLGECF1906
CACNA1SY--GY--RP--------KKDIVQ-I-QAGL>R<TI-EEEAAPE-ICRT-------VSG----D1577
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1943 for SCN5A.