Variant position: 311 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1139 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LAIYAGVIKSAFDPPNFPIC LLGNRTLSRHGFDVCAKLAWE
Mouse LAIYAGVIKSAFDPPNFPIC LLGNRTLSRHGFDVCAKLAWE
Rat LAIYAGVIKSAFDPPNFPIC LLGNRTLSRHGFDVCAKLAWE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1139 Solute carrier family 12 member 5
299 – 418 Cytoplasmic
308 – 314
Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.
Stoedberg T.; McTague A.; Ruiz A.J.; Hirata H.; Zhen J.; Long P.; Farabella I.; Meyer E.; Kawahara A.; Vassallo G.; Stivaros S.M.; Bjursell M.K.; Stranneheim H.; Tigerschioeld S.; Persson B.; Bangash I.; Das K.; Hughes D.; Lesko N.; Lundeberg J.; Scott R.C.; Poduri A.; Scheffer I.E.; Smith H.; Gissen P.; Schorge S.; Reith M.E.; Topf M.; Kullmann D.M.; Harvey R.J.; Wedell A.; Kurian M.A.;
Nat. Commun. 6:8038-8038(2015)
Cited for: INVOLVEMENT IN DEE34; VARIANTS DEE34 HIS-311; PRO-426 AND ASP-551; CHARACTERIZATION OF VARIANTS DEE34 HIS-311; PRO-426 AND ASP-551;
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.