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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06213: Variant p.Asn42Lys

Insulin receptor
Gene: INSR
Variant information Variant position: help 42 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 Asparagine (N) to Lysine (K) at position 42 (N42K, p.Asn42Lys). 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 polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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; impairs transport to the plasma membrane and reduces the affinity to bind insulin. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 42 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 LLGAAGHLYPGEVCPGMDIR N NLTRLHELENCSVIEGHLQI 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                         LL------GAAGHLYPG------------------------------EVCPGMDIRN----NLTRLHELEN-------------CSVIEGHLQI

Mouse                         LV------GTAGHLYPG------------------------

Rat                           AG------GTAGHLYPG------------------------

Xenopus laevis                FM------LILCDQSDG------------------------

Caenorhabditis elegans        LL------FAFVQPCASIVE---------------------


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 28 – 758 Insulin receptor subunit alpha
Topological domain 28 – 758 Extracellular
Glycosylation 43 – 43 N-linked (GlcNAc...) asparagine
Glycosylation 52 – 52 N-linked (GlcNAc...) asparagine
Disulfide bond 35 – 53
Beta strand 33 – 42

Literature citations
Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.
Kadowaki T.; Kadowaki H.; Accili D.; Taylor S.I.;
J. Biol. Chem. 265:19143-19150(1990)
Cited for: CHARACTERIZATION OF VARIANT RMS LYS-42; Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.
Kadowaki T.; Kadowaki H.; Rechler M.M.; Serrano-Rios M.; Roth J.; Gorden P.; Taylor S.I.;
J. Clin. Invest. 86:254-264(1990)
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.