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UniProtKB/Swiss-Prot P06213: Variant p.His236Arg

Insulin receptor
Gene: INSR
Variant information

Variant position:  236
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Histidine (H) to Arginine (R) at position 236 (H236R, p.His236Arg).
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 medium size and polar (H) to large size and basic (R)
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

Variant description:  In RMS and LEPRCH; Winnipeg; 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:  236
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:   QKVCPTICKSHGCTAEGLCC  H SECLGNCSQPDDPTKCVACR
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                         QKVC------PTICKSHGCTAEGLCCHSECLGNCS-QPDDPTKCVACR

Mouse                         QKVC------PTICKSHGCTAEGLCCHKECLGNCS-EPDDP

Rat                           QKVC------PTICKSHGCTAEGLCCHKECLGNCS-EPDDP

Xenopus laevis                QKVC------PSDCKGSGCLPDGQCCHPECLGSCR-KPNDP

Caenorhabditis elegans        QKSCAYDRLLPTKEIGPGCDANGDRCHDQCVGGCE-RVNDA

Drosophila                    QTKC------PEKCRNN-CIDEHTCCSQDCLGGCVIDKNGN

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
Glycosylation 242 – 242 N-linked (GlcNAc...) asparagine
Disulfide bond 235 – 243


Literature citations

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)
Cited for: VARIANT RMS LYS-42; VARIANT LEPRCH ARG-236; VARIANT IRAN TYPE A SER-489;

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.