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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99250: Variant p.Val1326Leu

Sodium channel protein type 2 subunit alpha
Gene: SCN2A
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Variant information Variant position: help 1326
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Leucine (L) at position 1326 (V1326L, p.Val1326Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In DEE11; the disease progresses to West syndrome.


Sequence information Variant position: help 1326
Protein sequence length: help 2005
Location on the sequence: help RTLRALRPLRALSRFEGMRV V VNALLGAIPSIMNVLLVCLI
Residue conservation: help 
Human                         RTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLI

Mouse                         RTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLI

Rat                           RTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2005 Sodium channel protein type 2 subunit alpha
Topological domain 1320 – 1336 Cytoplasmic
Repeat 1190 – 1504 III
Helix 1321 – 1330



Literature citations
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Nakamura K.; Kato M.; Osaka H.; Yamashita S.; Nakagawa E.; Haginoya K.; Tohyama J.; Okuda M.; Wada T.; Shimakawa S.; Imai K.; Takeshita S.; Ishiwata H.; Lev D.; Lerman-Sagie T.; Cervantes-Barragan D.E.; Villarroel C.E.; Ohfu M.; Writzl K.; Gnidovec Strazisar B.; Hirabayashi S.; Chitayat D.; Myles Reid D.; Nishiyama K.; Kodera H.; Nakashima M.; Tsurusaki Y.; Miyake N.; Hayasaka K.; Matsumoto N.; Saitsu H.;
Neurology 81:992-998(2013)
Cited for: VARIANTS DEE11 GLY-169; ASP-212; ASP-213; SER-236; THR-263; GLN-853; THR-876; LYS-999; VAL-1323; LEU-1326; TYR-1336; THR-1338; ASN-1623 AND LEU-1629;
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.