UniProtKB/Swiss-Prot Q9ULD2: Variant p.His575Arg

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 575 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 Histidine (H) to Arginine (R) at position 575 (H575R, p.His575Arg). 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 (H) to large size and basic (R) 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 rs209569 [ dbSNP | Ensembl ]

Sequence information

Variant position: 575 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1270 The length of the canonical sequence.
Location on the sequence: RTPRSDLNADKKAEILINKT H KQQFNKLITSQAVHVTTHSK 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	1 – 1270	Microtubule-associated tumor suppressor 1
Alternative sequence	1 – 928	Missing. In isoform 4.
Alternative sequence	1 – 855	Missing. In isoform 7.
Alternative sequence	1 – 834	Missing. In isoform 3.
Alternative sequence	1 – 753	Missing. In isoform 6.

Literature citations

Differential expression in normal trophoblast and gestational tumors.
Abadie P.A.; Genti-Raimondi S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-891 (ISOFORM 2); VARIANTS ARG-148 AND ARG-575; Mutation analysis of the 8p22 candidate tumor suppressor gene ATIP/MTUS1 in hepatocellular carcinoma.
Di Benedetto M.; Pineau P.; Nouet S.; Berhouet S.; Seitz I.; Louis S.; Dejean A.; Couraud P.-O.; Strosberg A.D.; Stoppa-Lyonnet D.; Nahmias C.;
Mol. Cell. Endocrinol. 252:207-215(2006)
Cited for: VARIANTS HCC LYS-75; SER-563; HIS-873 AND ARG-1201; VARIANTS ARG-148; MET-425; THR-453; ARG-575; THR-911 AND GLN-1105;