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UniProtKB/Swiss-Prot P06213: Variant p.Ala2Gly

Insulin receptor
Gene: INSR
Variant information

Variant position:  2
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 Alanine (A) to Glycine (G) at position 2 (A2G, p.Ala2Gly).
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 small size and hydrophobic (A) to glycine (G)
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

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



Sequence information

Variant position:  2
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:   M  A TGGRRGAAAAPLLVAVAALL
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                         MATGG---------------------------------------------------------------------------------------RRGA----------AAAPLL--------VAVAALL

Mouse                         MGFG------------------

Rat                           MGSG------------------

Xenopus laevis                MGQGV-----------------

Caenorhabditis elegans        LGTTTEDMRLKQQRSSSRATEH

Drosophila                    FNCGIFNKRRRRQHQQQHHHHY

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
Signal peptide 1 – 27


Literature citations

The human insulin receptor cDNA: the structural basis for hormone-activated transmembrane signalling.
Ebina Y.; Ellis L.; Jarnagin K.; Edery M.; Graf L.; Clauser E.; Ou J.-H.; Masiarz F.; Kan Y.W.; Goldfine I.D.; Roth R.A.; Rutter W.J.;
Cell 40:747-758(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANTS GLY-2; HIS-171; THR-448 AND LYS-492;

Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes.
Ullrich A.; Bell J.R.; Chen E.Y.; Herrera R.; Petruzzelli L.M.; Dull T.J.; Gray A.; Coussens L.; Liao Y.-C.; Tsubokawa M.; Mason A.; Seeburg P.H.; Grunfeld C.; Rosen O.M.; Ramachandran J.;
Nature 313:756-761(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT); PROTEIN SEQUENCE OF 28-49 AND 763-782; GLYCOSYLATION AT ASN-43 AND ASN-769; VARIANT GLY-2;

Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction.
Seino S.; Seino M.; Bell G.I.;
Diabetes 39:123-128(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLY-2;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT); VARIANT GLY-2;

Characterization of the promoter region of the human insulin receptor gene. Evidence for promoter activity.
Araki E.; Shimada F.; Uzawa H.; Mori M.; Ebina Y.;
J. Biol. Chem. 262:16186-16191(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-33; VARIANT GLY-2;

Characterization of the promoter region of the human insulin receptor gene.
Araki E.; Shimada F.; Fukushima H.; Mori M.; Shichiri M.; Ebina Y.;
Diabetes Res. Clin. Pract. 7:S31-S33(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-33; VARIANT GLY-2;

Characterization of the promoter region and 3' end of the human insulin receptor gene.
Tewari D.S.; Cook D.M.; Taub R.;
J. Biol. Chem. 264:16238-16245(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-33; VARIANT GLY-2;

Structural and functional analysis of the insulin receptor promoter.
McKeon C.; Moncada V.; Pham T.; Salvatore P.; Kadowaki T.; Accili D.; Taylor S.I.;
Mol. Endocrinol. 4:647-656(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-33; VARIANT GLY-2;

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.