UniProtKB/Swiss-Prot P06213: Variant p.Tyr1361Cys

Insulin receptor
Gene: INSR
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Variant information Variant position:

1361 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Tyrosine (Y) to Cysteine (C) at position 1361 (Y1361C, p.Tyr1361Cys). 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 aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs13306449 [ dbSNP | Ensembl ]

Sequence information Variant position:

1361 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:

GGRDGGSSLGFKRSYEEHIP Y THMNGGKKNGRILTLPRSNP 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                         GGRDGGSSLGFKRSYEE---------------------------------------------HIPYTHMNGGK-------------------------------------------------------------------------------------KNGRILTLPRSNP

Mouse                         GGREGGSSLSIKRTYDE------------------------

Rat                           GCREGGSSLSIKRTYDE------------------------

Xenopus laevis                ---------SRTNIYEE------------------------

Caenorhabditis elegans        GSNERGAGFGEAVRLTDGVGSGHLND------------DDY

Drosophila                    GSGSAGSYTGTPRFYTPSATPGGGSGMAISDNPNYRLLDES

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.

Type	Positions	Description
Chain	763 – 1382	Insulin receptor subunit beta
Topological domain	980 – 1382	Cytoplasmic
Region	1360 – 1382	Disordered
Region	1361 – 1364	PIK3R1-binding
Modified residue	1355 – 1355	Phosphotyrosine; by autocatalysis
Modified residue	1361 – 1361	Phosphotyrosine; by autocatalysis

Literature citations
Frequency of mutations of insulin receptor gene in Japanese patients with NIDDM.
Kan M.; Kanai F.; Iida M.; Jinnouchi H.; Todaka M.; Imanaka T.; Ito K.; Nishioka Y.; Ohnishi T.; Kamohara S.; Hayashi H.; Murakami T.; Kagawa S.; Sano H.; Hashimoto N.; Yoshida S.; Makino H.; Ebina Y.;
Diabetes 44:1081-1086(1995)
Cited for: VARIANT T2D ALA-858; VARIANT CYS-1361;

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.