Paralogue Annotation for SCN5A residue 973

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 973
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 973

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AV991LSmall fibre neuropathyHigh4 21698661

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.



SCN5ANLTAP-DEDREM-NNLQL-ALARIQRGLRF>V<K-----------------------------974
SCN1ANLAAT-DDDNEM-NNLQI-AVDRMHKGVAY>V<K-----------------------------1027
SCN2ANLAAT-DDDNEM-NNLQI-AVGRMQKGIDF>V<K-----------------------------1018
SCN3ANLAAT-DDDNEM-NNLQI-AVGRMQKGIDY>V<K-----------------------------1019
SCN4ASLAAS-DEDGEM-NNLQI-AIGRIKLGIGF>A<K-----------------------------837
SCN7AKDVTA-EENNEA-KNLQL-AVARIKKGINY>V<L-----------------------------763
SCN8ANLAAT-DDDGEM-NNLQI-SVIRIKKGVAW>T<K-----------------------------1012
SCN9ANLTAI-EEDPDA-NNLQI-AVTRIKKGINY>V<K-----------------------------992
SCN10ANLTAP-EDDGEV-NNLQV-ALARIQV---F>G<H-----------------------------922
SCN11AERNGNLEGEARK-TKVQL-ALDRFRRAFCF>V<R-----------------------------847
CACNA1AELTKDEQEEEEA-ANQKL-ALQKAKEVAEV>S<PLSAANMS--------------IAVKEQQK766
CACNA1BELTKDEEEMEEA-ANQKL-ALQKAKEVAEV>S<PMSAANIS--------------IAA--RQQ760
CACNA1CSLTSAQKEEEEE-KERKK-LART---AS-->-<------------------------------783
CACNA1DSLNTAQKEEAEE-KERKK-IARK---ES-->-<------------------------------802
CACNA1EELTKDEQEEEEA-FNQKH-ALQKAKEVSPM>S<APNMPSIERDRRRRHHMSMWEPRSSHLRER769
CACNA1FA-GTAKDKGGEK-SNEKDLPQEN---EG-->-<------------------------------788
CACNA1GEISKREDASGQL-SCIQL-PVDSQGGDANK>S<------------ESE---------------1002
CACNA1HGDANRSDTDEDKTSVHFEEDFHKL------>-<------------------------------1045
CACNA1IDAN-RSYSDEDQSSSNIE-EFDKLQE---->-<------------------------------893
CACNA1SSLTSAQKAKAEE-KKRRK-MSKGLPDKS-->-<------------------------------694
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 973 for SCN5A.