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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99250: Variant p.Gln1479Pro

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position: help 1479
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamine (Q) to Proline (P) at position 1479 (Q1479P, p.Gln1479Pro).
Physico-chemical properties: help Change from medium size and polar (Q) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In DEE11.


Sequence information Variant position: help 1479
Protein sequence length: help 2005
Location on the sequence: help FGSFFTLNLFIGVIIDNFNQ Q KKKFGGQDIFMTEEQKKYYN
Residue conservation: help 
Human                         FGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYN

Mouse                         FGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYN

Rat                           FGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2005 Sodium channel protein type 2 subunit alpha
Topological domain 1470 – 1532 Cytoplasmic
Repeat 1190 – 1504 III
Site 1489 – 1489 Important for channel closure
Helix 1463 – 1482



Literature citations
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS DEE11 MET-873; ILE-987; LYS-999; VAL-999; GLN-1260; GLU-1260; 1435-ARG--LYS-2005 DEL; PRO-1479; PRO-1650; PHE-1829 AND GLN-1882;
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.