Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 635 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 MPHFGTRYVCQFPDQEEVRL FFPLHLWVKNVFLNQTRTQRV
Mouse VPTFGTRYVCQFPAQDEVRL FFPLHLWVKNVSLNQTLIQRV
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
26 – 635 Thrombopoietin receptor
26 – 491 Extracellular
117 – 117 N-linked (GlcNAc...) asparagine
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
Germeshausen M.; Ballmaier M.; Welte K.;
Hum. Mutat. 27:296-296(2006)
Cited for: VARIANTS CAMT CYS-102; PRO-102; SER-104; LEU-136; ARG-154; LEU-257; THR-275; CYS-435 AND TRP-594;
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
Stockklausner C.; Klotter A.C.; Dickemann N.; Kuhlee I.N.; Duffert C.M.; Kerber C.; Gehring N.H.; Kulozik A.E.;
Cited for: VARIANT THCYT2 LEU-106; CHARACTERIZATION OF VARIANT THCYT2 LEU-106; CHARACTERIZATION OF VARIANTS CAMT PRO-102 AND SER-104; GLYCOSYLATION; SUBCELLULAR LOCATION; SUBUNIT;
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