UniProtKB/Swiss-Prot Q8NHP1: Variant p.Ala255Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 255 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 Alanine (A) to Threonine (T) at position 255 (A255T, p.Ala255Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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: The sequence shown in this entry differs from the translation of the reference genome assembly (GRCh38/hg38) due to a nonsense variant creating stop codon at position 106 in the reference genome. This sequence carries a selenocysteine-insertion element (SECIS)-like structure that during translation may recode an in-frame TGA-stop codon to a selenocysteine. However, there is no evidence that such a protein is produced in vivo. The sequence shown in this entry is that of variant p.Ter106Arg. This variant has a frequency of about 3% in the human population according to the Genome Aggregation Database (gnomAD v3.1.2). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs2235795 [ dbSNP | Ensembl ]

Sequence information

Variant position: 255 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 331 The length of the canonical sequence.
Location on the sequence: HFWKEHHFEGIALVEKALQA A YGASAPSMTSAALRWMYHHS 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 – 331	Aflatoxin B1 aldehyde reductase member 4
Alternative sequence	170 – 331	GMYSATTRQVETELFPCLRHFGLRFYAYNPLAGGLLTGKYKYEDKDGKQPVGRFFGTQWAEIYRNHFWKEHHFEGIALVEKALQAAYGASAPSMTSAALRWMYHHSQLQGAHGDAVILGMSSLEQLEQNLAAAEEGPLEPAVVDAFNQAWHLFAHECPNYFI -> LLEGAPLRGHCPGGEGPAGRVWRQRSQHDLGRPPVDVPPLTAAGCPRGRGHPGHVQPGAAGAELGSGRGRAPGAGCRGRL. In isoform 2.

Literature citations

Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1 in a region frequently altered in human tumour cells.
Praml C.; Savelyeva L.; Schwab M.;
Oncogene 22:4765-4773(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 73-331; VARIANTS 106-ARG--ILE-331 DEL AND THR-255; POLYMORPHISM; TISSUE SPECIFICITY;