UniProtKB/Swiss-Prot P50895: Variant p.Thr539Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 539 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 539 (T539A, p.Thr539Ala). 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
Polymorphism: BCAM is responsible for the Lutheran blood group system (LU) [MIM:111200]. Lutheran is a complex blood group system consisting of 19 antigens. Antigens Lu(a) and Lu(b) are defined by a polymorphism at position 77: Lu(a) has His-77 and Lu(b) has Arg-77.Inactivating variants in BCAM are responsible for the recessive Lutheran null phenotype Lu(a-b-) of the Lutheran blood group [MIM:247420]. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum. - Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs1135062 [ dbSNP | Ensembl ]

Sequence information

Variant position: 539 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 628 The length of the canonical sequence.
Location on the sequence: GISCEASNPHGNKRHVFHFG T VSPQTSQAGVAVMAVAVSVG 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	32 – 628	Basal cell adhesion molecule
Topological domain	32 – 547	Extracellular
Domain	448 – 541	Ig-like C2-type 3

Literature citations

The Lutheran blood group glycoprotein, another member of the immunoglobulin superfamily, is widely expressed in human tissues and is developmentally regulated in human liver.
Parsons S.F.; Mallinson G.; Holmes C.H.; Houlihan J.M.; Simpson K.L.; Mawby W.J.; Spurr N.K.; Warne D.; Barclay A.N.; Anstee D.J.;
Proc. Natl. Acad. Sci. U.S.A. 92:5496-5500(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF 32-67 AND 182-203; VARIANT ALA-539; Molecular cloning of the B-CAM cell surface glycoprotein of epithelial cancers: a novel member of the immunoglobulin superfamily.
Campbell I.G.; Foulkes W.D.; Senger G.; Trowsdale J.; Garin-Chesa P.; Rettig W.J.;
Cancer Res. 54:5761-5765(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-588; VARIANT ALA-539; Molecular basis of Lub(-) individual among Chinese blood donors in Shanghai area.
Wang C.; Li Q.; Guo Z.; Yang Y.; Zhu Z.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 492-539; VARIANT ALA-539;