UniProtKB/Swiss-Prot Q01974: Variant p.Thr245Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 245 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 245 (T245A, p.Thr245Ala). 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
Other resources: Links to websites of interest for the variant.

• Variant rs10820900 [ dbSNP | Ensembl ]

Sequence information

Variant position: 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 943 The length of the canonical sequence.
Location on the sequence: QFAIPSFCHFVFPLCDARSR T PKPRELCRDECEVLESDLCR 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
Chain	34 – 943	Tyrosine-protein kinase transmembrane receptor ROR2
Topological domain	34 – 403	Extracellular
Domain	169 – 303	FZ
Disulfide bond	223 – 264

Literature citations

A novel family of cell surface receptors with tyrosine kinase-like domain.
Masiakowski P.; Carroll R.D.;
J. Biol. Chem. 267:26181-26190(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-245; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 33-943; VARIANTS ALA-245 AND ILE-819; Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.
Oldridge M.; Fortuna A.M.; Maringa M.; Propping P.; Mansour S.; Pollitt C.; DeChiara T.M.; Kimble R.B.; Valenzuela D.M.; Yancopoulos G.D.; Wilkie A.O.M.;
Nat. Genet. 24:275-278(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-943; VARIANTS ALA-245 AND ILE-819; Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Schwabe G.C.; Tinschert S.; Buschow C.; Meinecke P.; Wolff G.; Gillessen-Kaesbach G.; Oldridge M.; Wilkie A.O.M.; Koemec R.; Mundlos S.;
Am. J. Hum. Genet. 67:822-831(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 34-574; VARIANT ALA-245; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-244; ALA-245; ASP-349; ALA-490; GLN-530; MET-542; SER-548; LEU-557; ASN-644; ASN-672; ARG-695; CYS-738; LEU-762; ILE-819 AND GLU-935;