Variant position: 484 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 756 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 SMELLPPELPPRIPIEEGPP TGTVHPLSAPYPPLDTPETAT
Mouse SMELLPPELPPRIPIEEGPP AGTVHPLSTPYPPLDTPEAAT
Rat SMELLPPELPPRIPIEEGPP AGTVHPLSTPYPPLDTPEAAT
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 – 756 SH2B adapter protein 1
1 – 555 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation)
494 – 494 Phosphotyrosine; by JAK1, JAK2
Kinase activation through dimerization by human SH2-B.
Nishi M.; Werner E.D.; Oh B.C.; Frantz J.D.; Dhe-Paganon S.; Hansen L.; Lee J.; Shoelson S.E.;
Mol. Cell. Biol. 25:2607-2621(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); FUNCTION IN JAK2 ACTIVATION; SELF-ASSOCIATION; INTERACTION WITH JAK2; SH2B2; INSR AND IGF1R; PHOSPHORYLATION; TISSUE SPECIFICITY; MUTAGENESIS OF PHE-29; ALA-34; ALA-38; PHE-41; ALA-42; TYR-48; PHE-68; PHE-72 AND ARG-555; VARIANT ALA-484;
The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 144-756 (ISOFORM 3); VARIANT ALA-484;
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.