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UniProtKB/Swiss-Prot Q06124: Variant p.Gln79Arg

Tyrosine-protein phosphatase non-receptor type 11
Gene: PTPN11
Variant information

Variant position:  79
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 Glutamine (Q) to Arginine (R) at position 79 (Q79R, p.Gln79Arg).
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 (Q) to large size and basic (R)
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 NS1.
Any additional useful information about the variant.

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

Sequence information

Variant position:  79
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  593
The length of the canonical sequence.

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.





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.

Chain 2 – 593 Tyrosine-protein phosphatase non-receptor type 11
Domain 6 – 102 SH2 1
Modified residue 62 – 62 Phosphotyrosine
Modified residue 66 – 66 Phosphotyrosine
Helix 74 – 82

Literature citations

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Tartaglia M.; Mehler E.L.; Goldberg R.; Zampino G.; Brunner H.G.; Kremer H.; van der Burgt I.; Crosby A.H.; Ion A.; Jeffery S.; Kalidas K.; Patton M.A.; Kucherlapati R.S.; Gelb B.D.;
Nat. Genet. 29:465-468(2001)
Cited for: VARIANTS NS1 GLY-61; CYS-63; GLY-72; SER-72; ASP-76; ARG-79; VAL-282; ASP-308 AND VAL-504;

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
Tartaglia M.; Kalidas K.; Shaw A.; Song X.; Musat D.L.; van der Burgt I.; Brunner H.G.; Bertola D.R.; Crosby A.H.; Ion A.; Kucherlapati R.S.; Jeffery S.; Patton M.A.; Gelb B.D.;
Am. J. Hum. Genet. 70:1555-1563(2002)
Cited for: VARIANTS NS1 ALA-42; ALA-60; ASN-61; GLY-61; ASP-62; CYS-63; GLY-72; ILE-73; ASP-76; ARG-79; ALA-106; ASP-139; CYS-279; VAL-282; LEU-285; SER-285; ASP-308; SER-308; VAL-309; LYS-501 AND VAL-504;

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.
Schollen E.; Matthijs G.; Gewillig M.; Fryns J.-P.; Legius E.;
Eur. J. Hum. Genet. 11:85-88(2003)
Cited for: VARIANT NS1 ARG-79;

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
Musante L.; Kehl H.G.; Majewski F.; Meinecke P.; Schweiger S.; Gillessen-Kaesbach G.; Wieczorek D.; Hinkel G.K.; Tinschert S.; Hoeltzenbein M.; Ropers H.-H.; Kalscheuer V.M.;
Eur. J. Hum. Genet. 11:201-206(2003)
Cited for: VARIANTS NS1 LYS-58; ASN-61; GLY-61; CYS-63; GLN-69; LEU-71; SER-72; ILE-73; ASP-76; ARG-79; ASP-139; ARG-256; VAL-282 AND ASP-308;

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.