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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15858: Variant p.Ser490Asn

Sodium channel protein type 9 subunit alpha
Gene: SCN9A
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Variant information Variant position: help 490
Type of variant: help LB/B
Residue change: help From Serine (S) to Asparagine (N) at position 490 (S490N, p.Ser490Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 490
Protein sequence length: help 1988
Location on the sequence: help SKSAKERRNRRKKKNQKKLS S GEEKGDAEKLSKSESEDSIR
Residue conservation: help 
Human                         SKSAKERRNRRKKKNQKKLSSGEEKGDAEKLSKSESEDSIR

Mouse                         SKSAKERRNRRKKKKQ-KLSSGEEKGDDEKLSKSGSEESIR

Rat                           SKSAKERRNRRKKKKQ-KMSSGEEKGDDEKLSKSGSEESIR

Rabbit                        SKSAKERRNRRKKKNQKKLSSGEEKGDDEKLSKSESEESIS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1988 Sodium channel protein type 9 subunit alpha
Topological domain 403 – 745 Cytoplasmic
Region 461 – 543 Disordered
Compositional bias 489 – 510 Basic and acidic residues



Literature citations
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
Singh N.A.; Pappas C.; Dahle E.J.; Claes L.R.; Pruess T.H.; De Jonghe P.; Thompson J.; Dixon M.; Gurnett C.; Peiffer A.; White H.S.; Filloux F.; Leppert M.F.;
PLoS Genet. 5:E1000649-E1000649(2009)
Cited for: VARIANTS VAL-62; GLN-149; MET-228; ASN-490; LYS-519; TYR-641; ARG-666; MET-695; TYR-710; VAL-750; PHE-1134; GLN-1171 AND VAL-1278;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.