Paralogue Annotation for SCN5A residue 1043

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1043
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1043

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1ER879WEpileptic encephalopathy with infantile spasmsLow2 26795593

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.



SCN5AT-----------------------PGD--P>E<------------------------------1043
SCN1AT-----------------------GSS--V>E<KY-IIDESDYM--------SFINN------1108
SCN2A------------------------GSS--V>E<KY-VVDESDYM--------SFINN------1098
SCN3AT-----------------------GSS--V>E<KY-VIDENDYM--------SFINN------1096
SCN4A-------------------------LA--D>G<PP-SSLELDHL--------NFINN------917
SCN7A--------------------------G--T>E<KN--ATENESQ--------SLIPS------829
SCN8A------------------------GSS--V>E<KY-IIDE-DHM--------SFINN------1089
SCN9A------------------------GSS--V>D<KH-LMEDSDGQ--------SFIHN------1071
SCN10AA-----------------------PRG--P>-<------RDEHS--------DFIAN------990
SCN11AI-----------------------LTS--V>P<KT-LGVRHDW--------------------913
CACNA1AYHDRARDPSGSAGLDARRPWA-GSQEAELS>R<EG-P--YGRESDHH-AREGSLEQPGFWEGE920
CACNA1BHRDKDKTPAAG---D----QDRAEAPKAES>G<EP-G---AREERPRPHRSHSKEAAGPPEAR904
CACNA1C--P------A-------V------------>-<------------------------------796
CACNA1D--P------E-------V------------>-<------------------------------813
CACNA1EKGDGGDRSSAL---DNQRTP-LSLGQ---->R<EPPW---LARPCHG-NCDPTQQEAGGGEAV905
CACNA1F--P------G-------V------------>-<------------------------------793
CACNA1GAHEMKSPPSARSSPH----S--P-WSA--A>S<SW-TSRRSSRN--------SLGRA-----P1117
CACNA1HLGDQKPPASLRSSPC----A--P-WGP--S>G<AW-SSRRSSWS--------SLGRA-----P1152
CACNA1ISYDQRSLSSSRSSYY----G--P-WGR--S>A<AW-ASRRSSWN--------SLKHK-----P998
CACNA1S--K------K-------L------------>-<------------------------------705
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1043 for SCN5A.