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UniProtKB/Swiss-Prot P06213: Variant p.Arg1119Trp

Insulin receptor
Gene: INSR
Variant information

Variant position:  1119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Tryptophan (W) at position 1119 (R1119W, p.Arg1119Trp).
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 large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 LEPRCH.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1119
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1382
The length of the canonical sequence.

Location on the sequence:   TLVVMELMAHGDLKSYLRSL  R PEAENNPGRPPPTLQEMIQM
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                         TLVVMELMAHGDLKSYLRSLRPEAENNP------GRP-------PPTLQEMIQM

Mouse                         TLVVMELMAHGDLKSHLRSLRPDAENNP------GRP----

Rat                           TLVVMELMAHGDLKSHLRSLRPDAENNP------GRP----

Xenopus laevis                TLVIMELMAHGDLKSYLRSLRPDAENNP------GRL----

Caenorhabditis elegans        AMVVMEMMDLGNLRDYLRSKREDEVFNETDCNFFDII----

Drosophila                    ALVVMELMKKGDLKSYLRAHRPEERDEA-MMTYLNRIGVTG

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.

TypePositionsDescription
Chain 763 – 1382 Insulin receptor subunit beta
Topological domain 980 – 1382 Cytoplasmic
Domain 1023 – 1298 Protein kinase
Beta strand 1119 – 1121


Literature citations

Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families.
Desbois-Mouthon C.; Girodon E.; Ghanem N.; Caron M.; Pennerath A.; Conteville P.; Magre J.; Besmond C.; Goossens M.; Capeau J.; Amselem S.;
Prenat. Diagn. 17:657-663(1997)
Cited for: VARIANTS LEPRCH TRP-1119 AND LYS-1206;

Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.
Maassen J.A.; Tobias E.S.; Kayserilli H.; Tukel T.; Yuksel-Apak M.; D'Haens E.; Kleijer W.J.; Fery F.; van der Zon G.C.M.;
J. Clin. Endocrinol. Metab. 88:4251-4257(2003)
Cited for: VARIANT IRAN TYPE A HIS-279; VARIANTS LEPRCH GLN-120; LEU-350; ASP-458 AND TRP-1119; CHARACTERIZATION OF VARIANT IRAN TYPE A HIS-279; CHARACTERIZATION OF VARIANTS LEPRCH GLN-120 AND ASP-458;

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.