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UniProtKB/Swiss-Prot P08069: Variant p.Arg1337Cys

Insulin-like growth factor 1 receptor
Gene: IGF1R
Variant information

Variant position:  1337
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 Arginine (R) to Cysteine (C) at position 1337 (R1337C, p.Arg1337Cys).
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 basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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 IGF1RES; a benign mutation or a rare polymorphism, significant decrease in IGF1-induced DNA synthesis; significant increase in IGF1-induced AKT1 phosphorylation in patient fibroblasts.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1337
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1367
The length of the canonical sequence.

Location on the sequence:   PDRHSGHKAENGPGPGVLVL  R ASFDERQPYAHMNGGRKNER
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                         PDRHSGHKAENGPGPGVLVLRASFDERQPYAHMNGGRKNER

Mouse                         PERHSGHKAENGPGPGVLVLRASFDERQPYAHMNGGRANER

Rat                           PERHSGHKAEN--GPGVLVLRASFDERQPYAHMNGGRANER

Xenopus laevis                SEHHAGHKSEN--GPGVVVLRASFDERQPYAHMNGGRKNER

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 741 – 1367 Insulin-like growth factor 1 receptor beta chain
Topological domain 960 – 1367 Cytoplasmic
Mutagenesis 1346 – 1346 Y -> F. Loss of GRB10-binding.


Literature citations

Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment.
Juanes M.; Guercio G.; Marino R.; Berensztein E.; Warman D.M.; Ciaccio M.; Gil S.; Bailez M.; Rivarola M.A.; Belgorosky A.;
Clin. Endocrinol. (Oxf.) 82:704-711(2015)
Cited for: VARIANTS IGF1RES TYR-359; CYS-865; SER-1256 AND CYS-1337; CHARACTERIZATION OF VARIANTS IGF1RES TYR-359; CYS-865; SER-1256 AND CYS-1337;

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.