Variant position: 937 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1237 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 PATEESSSSSEEEEVPSSPE PPRPAKRPRR-ELGSKGLKGGG
Mouse PATEESSSSSEEE-LPSSPE PPRPTKRARRGELGNKGIKGG
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 – 1237 Zinc finger protein 687
954 – 954 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
ZNF687 mutations in severe paget disease of bone associated with giant cell tumor.
Divisato G.; Formicola D.; Esposito T.; Merlotti D.; Pazzaglia L.; Del Fattore A.; Siris E.; Orcel P.; Brown J.P.; Nuti R.; Strazzullo P.; Benassi M.S.; Cancela M.L.; Michou L.; Rendina D.; Gennari L.; Gianfrancesco F.;
Am. J. Hum. Genet. 98:275-286(2016)
Cited for: VARIANTS PDB6 ILE-242 AND ARG-937; SUBCELLULAR LOCATION; DEVELOPMENTAL STAGE; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT ARG-937;
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.