Variant position: 265 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 597 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 QGFWEEFETLQQQECKLLYS RKEGQRQENKNKNRYKNILPF
Mouse QGFWEEFETLQQQECKLLYS RKEGQRQENKNKNRYKNILPF
Rat QGFWEEFETLQQQECKLLYS RKEGQRQENKNKNRYKNILPF
Chicken QGFWEEFETLQQQECKLLYS RKEGQRQENKNKNRYKNILPF
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
2 – 597 Tyrosine-protein phosphatase non-receptor type 11
247 – 521 Tyrosine-protein phosphatase
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Pannone L.; Bocchinfuso G.; Flex E.; Rossi C.; Baldassarre G.; Lissewski C.; Pantaleoni F.; Consoli F.; Lepri F.; Magliozzi M.; Anselmi M.; Delle Vigne S.; Sorge G.; Karaer K.; Cuturilo G.; Sartorio A.; Tinschert S.; Accadia M.; Digilio M.C.; Zampino G.; De Luca A.; Cav e H.; Zenker M.; Gelb B.D.; Dallapiccola B.; Stella L.; Ferrero G.B.; Martinelli S.; Tartaglia M.;
Hum. Mutat. 38:451-459(2017)
Cited for: VARIANTS NS1 HIS-261; PHE-261; ARG-262; PHE-262 AND GLN-265; CHARACTERIZATION OF VARIANTS NS1 HIS-261; PHE-261; ARG-262; PHE-262 AND GLN-265; FUNCTION; CATALYTIC ACTIVITY;
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