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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06213: Variant p.Ala1162Glu

Insulin receptor
Gene: INSR
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Variant information Variant position: help 1162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Glutamate (E) at position 1162 (A1162E, p.Ala1162Glu). 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: help Change from small size and hydrophobic (A) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In IRAN type A; impairs proteolytic processing. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1382 The length of the canonical sequence.
Location on the sequence: help EIADGMAYLNAKKFVHRDLA A RNCMVAHDFTVKIGDFGMTR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTR

Mouse                         EIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTR

Rat                           EIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTR

Xenopus laevis                EISDGMAYLNAKKFVHRDLAARNCMVADDYAVKIGDFGMTR

Caenorhabditis elegans        QICDGMAYLESLKFCHRDLAARNCMINRDETVKIGDFGMAR

Drosophila                    EIADGMAYLAAKKFVHRDLAARNCMVADDLTVKIGDFGMTR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 763 – 1382 Insulin receptor subunit beta
Topological domain 980 – 1382 Cytoplasmic
Domain 1023 – 1298 Protein kinase
Active site 1159 – 1159 Proton donor/acceptor
Binding site 1177 – 1177
Mutagenesis 1159 – 1159 D -> N. Loss of kinase activity.
Mutagenesis 1163 – 1163 R -> Q. Loss of kinase activity.
Helix 1162 – 1164



Literature citations
Substitution of glutamic acid for alanine 1135 in the putative 'catalytic loop' of the tyrosine kinase domain of the human insulin receptor. A mutation that impairs proteolytic processing into subunits and inhibits receptor tyrosine kinase activity.
Cama A.; de la Luz Sierra M.; Quon M.J.; Ottini L.; Gorden P.; Taylor S.I.;
J. Biol. Chem. 268:8060-8069(1993)
Cited for: CHARACTERIZATION OF VARIANT IRAN TYPE A GLU-1162;
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.