Sequence information
Variant position: 541 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:
PLSGYPWFHGMLSRLKAAQL
V LTGGTGSHGVFLVRQSETRR
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 PLSGYPWFHGMLSRLKAAQLV LTGGTGSHGVFLVRQSETRR
Mouse PLSGYPWFHGMLSRLKAAQLV LEGGTGSHGVFLVRQSETRR
Rat PLSGYPWFHGMLSRLKAAQLV LEGGTSSHGVFLVRQSETRR
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
Chain
1 – 756
SH2B adapter protein 1
Domain
527 – 625
SH2
Region
1 – 555
Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation)
Mutagenesis
555 – 555
R -> A. Abolishes self-association and interaction with INSR and IGF1R.
Helix
534 – 542
Literature citations
Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Kikuno R.; Ishikawa K.; Hirosawa M.; Ohara O.;
DNA Res. 7:65-73(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT ALA-541;
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.