UniProtKB/Swiss-Prot P06213: Variant p.Val1054Met

Insulin receptor
Gene: INSR
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Variant information Variant position:

1054 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Valine (V) to Methionine (M) at position 1054 (V1054M, p.Val1054Met). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 IRAN type A; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1135401741 [ dbSNP | Ensembl ]

Sequence information Variant position:

1054 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:

FGMVYEGNARDIIKGEAETR V AVKTVNESASLRERIEFLNE 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                         FGMVYEGNARDIIK--GEAETRVAVKTVNESASLRERIEFLNE

Mouse                         FGMVYEGNAKDIIK--GEAETRVAVKTVNESASLRERIEFL

Rat                           FGMVYEGNAKDIIK--GEVETRVAVKTVNESASLRERIEFL

Xenopus laevis                FGMVYEGIAKDIIK--GEPEVRVAVKTVNESASLRERIEFL

Caenorhabditis elegans        FGKVYLGTGNNVVSLMGDRFGPCAIKINVDDPASTENLNYL

Drosophila                    FGMVYEGILKSFPP--NGVDRECAIKTVNENATDRERTNFL

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
Domain	1023 – 1298	Protein kinase
Binding site	1057 – 1057
Mutagenesis	1057 – 1057	K -> A. Abolishes the kinase activity and abolishes interaction with IRS1, SHC1, GRB7 and PIK3R1.
Mutagenesis	1057 – 1057	K -> MR. Abolishes the kinase activity.
Beta strand	1050 – 1057

Literature citations
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J.; Kadowaki H.; Miya F.; Aizu K.; Kawamura T.; Miyata I.; Satomura K.; Ito T.; Hara K.; Tanaka M.; Ishiura H.; Tsuji S.; Suzuki K.; Takakura M.; Boroevich K.A.; Tsunoda T.; Yamauchi T.; Shojima N.; Kadowaki T.;
Diabetes 66:2713-2723(2017)
Cited for: VARIANTS RMS CYS-256; LEU-635; ILE-835; VAL-842; LEU-874; SER-878 AND 999-TYR--SER-1382 DEL; VARIANTS IRAN TYPE A ASP-489 AND MET-1054; VARIANTS LEPRCH PHE-657; ARG-659 AND CYS-818; CHARACTERIZATION OF VARIANTS LEPRCH PHE-657; ARG-659; CYS-818; THR-925; TRP-926 AND MET-937; CHARACTERIZATION OF VARIANTS RMS LEU-635; ILE-835; VAL-842; LEU-874 AND SER-878;

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.