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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06213: Variant p.Ile1143Thr

Insulin receptor
Gene: INSR
Variant information Variant position: help 1143 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 Isoleucine (I) to Threonine (T) at position 1143 (I1143T, p.Ile1143Thr). 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 medium size and hydrophobic (I) to medium size and polar (T) 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 RMS; reduces insulin binding. Any additional useful information about the variant.

Sequence information Variant position: help 1143 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 ENNPGRPPPTLQEMIQMAAE I ADGMAYLNAKKFVHRDLAAR 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                         ENNP------GRP-------PPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAAR

Mouse                         ENNP------GRP-------PPTLQEMIQMTAEIADGMAYL

Rat                           ENNP------GRP-------PPTLQEMIQMTAEIADGMAYL

Xenopus laevis                ENNP------GRL-------APTLKEIIQMAAEISDGMAYL

Caenorhabditis elegans        VFNETDCNFFDII-------PR--DKFHEWAAQICDGMAYL


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.
Chain 763 – 1382 Insulin receptor subunit beta
Topological domain 980 – 1382 Cytoplasmic
Domain 1023 – 1298 Protein kinase
Active site 1159 – 1159 Proton donor/acceptor
Mutagenesis 1159 – 1159 D -> N. Loss of kinase activity.
Mutagenesis 1163 – 1163 R -> Q. Loss of kinase activity.
Helix 1133 – 1152

Literature citations
Progressive decline in insulin levels in Rabson-Mendenhall syndrome.
Longo N.; Wang Y.; Pasquali M.;
J. Clin. Endocrinol. Metab. 84:2623-2629(1999)
Cited for: VARIANTS RMS THR-1143 AND TRP-1158; Genotype-phenotype correlation in inherited severe insulin resistance.
Longo N.; Wang Y.; Smith S.A.; Langley S.D.; DiMeglio L.A.; Giannella-Neto D.;
Hum. Mol. Genet. 11:1465-1475(2002)
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.