UniProtKB/Swiss-Prot P01241: Variant p.Thr3Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 3 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 Threonine (T) to Alanine (A) at position 3 (T3A, p.Thr3Ala). 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 (T) to small size and hydrophobic (A) 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
Variant description: Found in patients with isolated growth hormone deficiency. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs2001345 [ dbSNP | Ensembl ]

Sequence information

Variant position: 3 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 217 The length of the canonical sequence.
Location on the sequence: MA T GSRTSLLLAFGLLCLPWLQE 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.
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
Signal peptide	1 – 26

Literature citations

Detection of growth hormone gene defects by dideoxy fingerprinting (ddF).
Miyata I.; Cogan J.D.; Prince M.A.; Kamijo T.; Ogawa M.; Phillips J.A. III;
Endocr. J. 44:149-154(1997)
Cited for: VARIANT ALA-3; VARIANT IGHD2 HIS-209; Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.
Millar D.S.; Lewis M.D.; Horan M.; Newsway V.; Easter T.E.; Gregory J.W.; Fryklund L.; Norin M.; Crowne E.C.; Davies S.J.; Edwards P.; Kirk J.; Waldron K.; Smith P.J.; Phillips J.A. III; Scanlon M.F.; Krawczak M.; Cooper D.N.; Procter A.M.;
Hum. Mutat. 21:424-440(2003)
Cited for: VARIANTS IGHD1B PRO-16; ASN-37; CYS-42; ILE-53; ARG-67; ASP-73; PHE-97; LYS-100; LEU-117; CYS-134; ARG-134 AND ALA-201; VARIANTS ALA-3 AND ILE-136; A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway.
Lewis M.D.; Horan M.; Millar D.S.; Newsway V.; Easter T.E.; Fryklund L.; Gregory J.W.; Norin M.; Del Valle C.-J.; Lopez-Siguero J.P.; Canete R.; Lopez-Canti L.F.; Diaz-Torrado N.; Espino R.; Ulied A.; Scanlon M.F.; Procter A.M.; Cooper D.N.;
J. Clin. Endocrinol. Metab. 89:1068-1075(2004)
Cited for: VARIANT SHORT STATURE MET-205; VARIANTS ALA-3 AND ILE-136;