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UniProtKB/Swiss-Prot Q8N1G0: Variant p.Pro937Arg

Zinc finger protein 687
Gene: ZNF687
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Variant information Variant position: help 937
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Arginine (R) at position 937 (P937R, p.Pro937Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In PDB6; enhances nuclear localization; increases expression levels; R-937 containing osteoclasts induced by treatment of peripheral blood mononuclear cells with CSF1 and TNFSF11 exhibit a greater number of nuclei, as well as a larger surface area than did those from the control individuals.
Other resources: help


Sequence information Variant position: help 937
Protein sequence length: help 1237
Location on the sequence: help PATEESSSSSEEEEVPSSPE P PRPAKRPRRELGSKGLKGGG
Residue conservation: help 
Human                         PATEESSSSSEEEEVPSSPEPPRPAKRPRR-ELGSKGLKGGG

Mouse                         PATEESSSSS-EEELPSSPEPPRPTKRARRGELGNKGIKGG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1237 Zinc finger protein 687
Region 880 – 957 Disordered
Cross 954 – 954 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)



Literature citations
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;
Disclaimer: 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.