Variant position: 599 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 603 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 VGQGPGLERKGHHPLNPQVP PARQP
Mouse ADQGQRLGKERQGQLQPPVP -----
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
20 – 603 Serine protease 56
573 – 603 Disordered
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.
Nair K.S.; Hmani-Aifa M.; Ali Z.; Kearney A.L.; Ben Salem S.; Macalinao D.G.; Cosma I.M.; Bouassida W.; Hakim B.; Benzina Z.; Soto I.; Soderkvist P.; Howell G.R.; Smith R.S.; Ayadi H.; John S.W.;
Nat. Genet. 43:579-584(2011)
Cited for: VARIANT MCOP6 ALA-599;
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