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UniProtKB/Swiss-Prot P06213: Variant p.Gly386Ser

Insulin receptor
Gene: INSR
Variant information

Variant position:  386
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 Glycine (G) to Serine (S) at position 386 (G386S, p.Gly386Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Rabson-Mendenhall syndrome (RMS) [MIM:262190]: Severe insulin resistance syndrome characterized by insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10443650, ECO:0000269|PubMed:12023989, ECO:0000269|PubMed:17201797, ECO:0000269|PubMed:2121734, ECO:0000269|PubMed:2365819, ECO:0000269|PubMed:28765322, ECO:0000269|PubMed:8314008}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In RMS; may impair receptor processing.
Any additional useful information about the variant.

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



Sequence information

Variant position:  386
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:   SLIINIRGGNNLAAELEANL  G LIEEISGYLKIRRSYALVSL
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                         S--LIINIRG--GNNLAAELEANLGLIEEISGYLKIRRSYALVSL

Mouse                         S--LIINIRG--GNNLAAELEANLGLIEEISGFLKIRRSYA

Rat                           S--LIINIRG--GNNLAAELEANLGLIEEISGFLKIRRSYA

Xenopus laevis                S--LIINLRG--GNNIATELEANLGLIEEISGYLKIRRSYA

Caenorhabditis elegans        N--LTIEIRGKQDSGMASELKDIFANIHTITGYLLVRQSSP

Drosophila                    TEPLTISIKRESGAHVMDELKYGLAAVHKIQSSLMVHLTYG

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 28 – 758 Insulin receptor subunit alpha
Topological domain 28 – 758 Extracellular
Modified residue 400 – 400 Phosphoserine
Modified residue 401 – 401 Phosphotyrosine


Literature citations

Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome.
Tuthill A.; Semple R.K.; Day R.; Soos M.A.; Sweeney E.; Seymour P.J.; Didi M.; O'Rahilly S.;
Clin. Endocrinol. (Oxf.) 66:21-26(2007)
Cited for: VARIANTS RMS ARG-236 AND SER-386; CHARACTERIZATION OF VARIANTS RMS ARG-236 AND SER-386;

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.