UniProtKB/Swiss-Prot Q9NRF2: Variant p.Val541Ala

SH2B adapter protein 1
Gene: SH2B1
Feedback?

Variant information Variant position:

541 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Valine (V) to Alanine (A) at position 541 (V541A, p.Val541Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs17850682 [ dbSNP | Ensembl ]

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                         PLSGYPWFHGMLSRLKAAQLVLTGGTGSHGVFLVRQSETRR

Mouse                         PLSGYPWFHGMLSRLKAAQLVLEGGTGSHGVFLVRQSETRR

Rat                           PLSGYPWFHGMLSRLKAAQLVLEGGTSSHGVFLVRQSETRR

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.