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UniProtKB/Swiss-Prot Q9Y287: Variant p.Glu261Ala

Integral membrane protein 2B
Gene: ITM2B
Variant information

Variant position:  261
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Alanine (A) at position 261 (E261A, p.Glu261Ala).
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 small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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

Variant description:  In RDGCA.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  261
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  266
The length of the canonical sequence.

Location on the sequence:   QKREASNCFAIRHFENKFAV  E TLICS
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                         QKREASNCFAIRHFENKFAVETLICS-

Chimpanzee                    QKREASNCFAIRHFENKFAVETLICS

Mouse                         QKREASNCFTIRHFENKFAVETLICS

Rat                           QKREASNCFTIRHFENKFAVETLICS

Pig                           QKREASNCATIRHFENKFAVETLICS

Bovine                        QKRSADVCVTIRHFENRFAVETLICP

Chicken                       QKREAVNCRKIRHFENRFAMETLICE

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.

Chain 1 – 266 Integral membrane protein 2B
Peptide 244 – 266 Bri23 peptide
Topological domain 76 – 266 Lumenal
Disulfide bond 248 – 265 Interchain (between ADan peptide variants)

Literature citations

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
Audo I.; Bujakowska K.; Orhan E.; El Shamieh S.; Sennlaub F.; Guillonneau X.; Antonio A.; Michiels C.; Lancelot M.E.; Letexier M.; Saraiva J.P.; Nguyen H.; Luu T.D.; Leveillard T.; Poch O.; Dollfus H.; Paques M.; Goureau O.; Mohand-Said S.; Bhattacharya S.S.; Sahel J.A.; Zeitz C.;
Hum. Mol. Genet. 23:491-501(2014)

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.