Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06124: Variant p.Thr73Ile

Tyrosine-protein phosphatase non-receptor type 11
Gene: PTPN11
Feedback?
Variant information Variant position: help 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Threonine (T) to Isoleucine (I) at position 73 (T73I, p.Thr73Ile). 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: help Change from medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In NS1; also in Noonan patients manifesting juvenile myelomonocytic leukemia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 73 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 593 The length of the canonical sequence.
Location on the sequence: help HIKIQNTGDYYDLYGGEKFA T LAELVQYYMEHHGQLKEKNG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         HIKIQNTGDYYDLYGGEKFATLAELVQYYMEHHGQLKEKNG

Mouse                         HIKIQNTGDYYDLYGGEKFATLAELVQYYMEHHGQLKEKNG

Rat                           HIKIQNTGDYYDLYGGEKFATLAELVQYYMEHHGQLKEKNG

Chicken                       HIKIQNTGDYYDLYGGEKFATLAELVQYYMEHHGQLKEKNG
Sequence annotation in neighborhood: help 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 2 – 593 Tyrosine-protein phosphatase non-receptor type 11
Domain 6 – 102 SH2 1
Modified residue 62 – 62 Phosphotyrosine
Modified residue 66 – 66 Phosphotyrosine
Beta strand 70 – 73



Literature citations
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 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
Kosaki K.; Suzuki T.; Muroya K.; Hasegawa T.; Sato S.; Matsuo N.; Kosaki R.; Nagai T.; Hasegawa Y.; Ogata T.;
J. Clin. Endocrinol. Metab. 87:3529-3533(2002)
Cited for: VARIANTS NS1 GLY-61; CYS-63; SER-72; ILE-73; SER-285 AND ASP-308; 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; Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.
Tartaglia M.; Niemeyer C.M.; Fragale A.; Song X.; Buechner J.; Jung A.; Haehlen K.; Hasle H.; Licht J.D.; Gelb B.D.;
Nat. Genet. 34:148-150(2003)
Cited for: VARIANTS JMML TYR-61; VAL-61; LYS-69; THR-72; VAL-72; ALA-76; GLY-76; LYS-76; VAL-76; ALA-503 AND ARG-503; VARIANTS MYELODYSPLASTIC SYNDROME VAL-60; VAL-61; LYS-69; LEU-71 AND ALA-76; VARIANTS NS1 ASP-62 AND ILE-73; VARIANT ACUTE MYELOID LEUKEMIA LYS-71;
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.