UniProtKB/Swiss-Prot Q01362: Variant p.Glu237Gly

High affinity immunoglobulin epsilon receptor subunit beta
Gene: MS4A2
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Variant information Variant position:

237 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 Glutamate (E) to Glycine (G) at position 237 (E237G, p.Glu237Gly). 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 acidic (E) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Polymorphism:

Variant Glu-237 has been found to be present in about 5.3% of a 1004 individuals population sample in Australia (PubMed:8817330). Additional information on the polymorphism described.
Variant description:

Risk factor for atopic dermatitis and asthma. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs569108 [ dbSNP | Ensembl ]

Sequence information Variant position:

237 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

244 The length of the canonical sequence.
Location on the sequence:

RVYEELNIYSATYSELEDPG E MSPPIDL 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                         RVYEELNIYSATYSELEDPGEMSPPIDL

Mouse                         RLYEELNVYSPIYSELEDKGETSSPVDS

Rat                           RLYEELHVYSPIYSALEDTREASAPVVS

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 – 244	High affinity immunoglobulin epsilon receptor subunit beta
Topological domain	201 – 244	Cytoplasmic
Modified residue	219 – 219	Phosphotyrosine
Modified residue	225 – 225	Phosphotyrosine
Modified residue	226 – 226	Phosphoserine
Modified residue	229 – 229	Phosphotyrosine

Literature citations
A new variant of the beta subunit of the high-affinity receptor for immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of atopy and bronchial hyper-responsiveness.
Hill M.R.; Cookson W.O.;
Hum. Mol. Genet. 5:959-962(1996)
Cited for: VARIANT GLY-237; INVOLVEMENT IN ATOPIC ASTHMA SUSCEPTIBILITY; Association between atopic asthma and a coding variant of Fc-epsilon-RI-beta in a Japanese population.
Shirakawa T.; Mao X.-Q.; Sasaki S.; Enomoto T.; Kawai M.; Morimoto K.; Hopkin J.;
Hum. Mol. Genet. 5:1129-1130(1996)
Cited for: VARIANT GLY-237; INVOLVEMENT IN ATOPIC ASTHMA SUSCEPTIBILITY;

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.