Variant position: 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 594 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 KYETSGIGEARVKEVLLDED DDLWIALRHKHIAEVSQEVTR
Mouse KYETSGIGEARVKEVLLDED DDLWIALRHKHIAEVSQEVTR
Rat KYETSGIGEARVKEVLLDED DDLWIALRHKHIAEVSQEVTR
Bovine KYETSGIGEARVKEVLLDED DDLWIALRHKHIAEVSQEVTR
Chicken KYETSGIGEARVKEVLLDED DDLWVSLRHKHIAEVSQEVTR
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 – 594 Syntaxin-binding protein 1
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill G.L.; Weckhuysen S.; McMahon J.M.; Hartmann C.; Moller R.S.; Hjalgrim H.; Cook J.; Geraghty E.; O'Roak B.J.; Petrou S.; Clarke A.; Gill D.; Sadleir L.G.; Muhle H.; von Spiczak S.; Nikanorova M.; Hodgson B.L.; Gazina E.V.; Suls A.; Shendure J.; Dibbens L.M.; De Jonghe P.; Helbig I.; Berkovic S.F.; Scheffer I.E.; Mefford H.C.;
Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445;
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