Variant position: 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 469 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 PPNMETGMIYVVQGIYGYHH YMQDRIDDNGWGCAYRSLQTI
Mouse PPNIEGSMICVVQGTYAYHH YMQDRIDDNGWGCAYRSLQTI
Rat PPNIEGSMICMVQGTYAYHH YMQNRVDDNGWGCAYRSLQTV
Chicken SPGPESGVVYLVHGTYSYHH YMQDRTDDSGWGCAYRSLQTI
Xenopus laevis TPPLEGATVSLVQGLYSYHH YMQDRMDDNGWGCAYRSLQTI
Zebrafish PPNIEDAKLYLVQGVYSYHH YMQDRVDDDGWGCAYRSLQTI
Drosophila PSGVVDGKEYLVNGNYHYYH YLQQQVQDKGWGCAYRSLQTI
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 – 469 Ufm1-specific protease 2
302 – 302
302 – 302 C -> S. Catalytically inactive.
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
Watson C.M.; Crinnion L.A.; Gleghorn L.; Newman W.G.; Ramesar R.; Beighton P.; Wallis G.A.;
S. Afr. Med. J. 105:558-563(2015)
Cited for: INVOLVEMENT IN BFHD; VARIANT BFHD HIS-290; CHARACTERIZATION OF VARIANT BFHD HIS-290;
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.