Paralogue Annotation for SCN5A residue 1891

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1891
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1891

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AP1905LAutism spectrum disorder High4 21572417

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.



SCN5A--EMDALKIQMEEKFMA---ANP-SKISYE>P<ITTTLRRKHEEVS----AMVIQRAF-RRHL1916
SCN1A--EMDALRIQMEERFMA---SNP-SKVSYQ>P<ITTTLKRKQEEVS----AVIIQRAY-RRHL1930
SCN2A--EMDALRIQMEERFMA---SNP-SKVSYE>P<ITTTLKRKQEEVS----AIIIQRAY-RRYL1920
SCN3A--EMDALRIQMEDRFMA---SNP-SKVSYE>P<ITTTLKRKQEEVS----AAIIQRNF-RCYL1915
SCN4A--EMDALKQTMEEKFMA---ANP-SKVSYE>P<ITTTLKRKHEEVC----AIKIQRAY-RRHL1742
SCN7A--RMEKVVSEIESGFLL---ANP-FKITCE>P<ITTTLKRKQEAVS----ATIIQRAY-KNYR1640
SCN8A--ELDILRQQMEERFVA---SNP-SKVSYE>P<ITTTLRRKQEEVS----AVVLQRAY-RGHL1910
SCN9A--EMDSLRSQMEERFMS---ANP-SKVSYE>P<ITTTLKRKQEDVS----ATVIQRAY-RRYR1893
SCN10A--ELDSLKANMEEKFMA---TNL-SKSSYE>P<IATTLRWKQEDIS----ATVIQKAY-RSYV1866
SCN11A--GLDSMKAMMEEKFME---ANP-LKKLYE>P<IVTTTKRKEEERG----AAIIQKAF-RKYM1748
CACNA1AGADKQQMDAELRKEMMAIW-PNL-SQKTLD>L<LVTPHKSTDLTVGKIYAAMMIMEYY-RQSK1970
CACNA1BGTKQHQCDAELRKEISVVW-ANL-PQKTLD>L<LVPPHKPDEMTVGKVYAALMIFDFY-KQNK1869
CACNA1C--NLEQANEELRAIIKKIW-KRT-SMKLLD>Q<VVPPAGDDEVTVGKFYATFLIQEYF-RKFK1632
CACNA1D--NLEQANEELRAVIKKIW-KKT-SMKLLD>Q<VVPPAGDDEVTVGKFYATFLIQDYF-RKFK1640
CACNA1EGADRQQLDSELQKETLAIW-PHL-SQKMLD>L<LVPMPKASDLTVGKIYAAMMIMDYY-KQSK1882
CACNA1F--NLEQANQELRIVIKKIW-KRM-KQKLLD>E<VIPPPDEEEVTVGKFYATFLIQDYF-RKFR1597
CACNA1G--LLIQGSLEWELKLMDEL-AGPGGQPSAF>P<SAPSLGGSDP-----QIPLAEMEAL-SLTS1988
CACNA1H---------SVSRML-SLPNDSYM----FR>P<VVPASAPHPR-----PLQEVEMETYGAGTP1961
CACNA1I---------EGELTIIDNL-SGSI----FH>H<YSSPAGCKKCHHDKQEVQLAETEAF-SLNS1860
CACNA1S--NFEQANEELRAIIKKIW-KRT-SMKLLD>Q<VIPPIGDDEVTVGKFYATFLIQEHF-RKFM1537
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Pro1891Alac.5671C>G UnknownSIFT:
Polyphen: