Variant position: 10 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 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 MATEGMILT N-------------HDHQIRVGVLTVSDSCFRNL
Mouse MATEGMILT N-------------HDHQIRV
Rat MATEGMILT N-------------HDHQIRV
Chicken MASEGMILT N-------------HDHQIRV
Slime mold LTTERNITN SPTAAQLNEKESGKKEEEWIV
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 – 736 Gephyrin
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia.
Rees M.I.; Harvey K.; Ward H.; White J.H.; Evans L.; Duguid I.C.; Hsu C.-C.; Coleman S.L.; Miller J.; Baer K.; Waldvogel H.J.; Gibbon F.; Smart T.G.; Owen M.J.; Harvey R.J.; Snell R.G.;
J. Biol. Chem. 278:24688-24696(2003)
Cited for: VARIANT TYR-10; CHARACTERIZATION OF VARIANT TYR-10; INTERACTION WITH GLRB;
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