UniProtKB/Swiss-Prot Q9BX59: Variant p.Thr334Met

Tapasin-related protein
Gene: TAPBPL
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Variant information Variant position:

334 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 Methionine (M) at position 334 (T334M, p.Thr334Met). 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 medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs1045546 [ dbSNP | Ensembl ]

Sequence information Variant position:

334 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

468 The length of the canonical sequence.
Location on the sequence:

ALLPTLICDIAGYYPLDVVV T WTREELGGSPAQVSGASFSS 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ALLPTLICDIAGYYPLDVVVTWTREELGGSPAQVSGASFSS

Mouse                         DPLPSLVCSIAGYYPLDVGVTWIREELGGIPAQVSGASFSS

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	19 – 468	Tapasin-related protein
Topological domain	19 – 405	Lumenal
Domain	304 – 394	Ig-like C1-type
Disulfide bond	321 – 382
Alternative sequence	189 – 402	Missing. In isoform epsilon.
Alternative sequence	263 – 468	Missing. In isoform delta.
Alternative sequence	299 – 468	Missing. In isoform eta.
Alternative sequence	302 – 402	Missing. In isoform gamma.
Beta strand	332 – 338

Literature citations
A human TAPBP (TAPASIN)-related gene, TAPBP-R.
Teng M.S.; Stephens R.; Du Pasquier L.; Freeman T.; Lindquist J.A.; Trowsdale J.;
Eur. J. Immunol. 32:1059-1068(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA); SUBCELLULAR LOCATION; VARIANTS ARG-151 AND MET-334;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.