UniProtKB/Swiss-Prot P02766: Variant p.Thr139Met

Transthyretin
Gene: TTR
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Variant information Variant position:

139 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 139 (T139M, p.Thr139Met). 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
Variant description:

In Chicago variant. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28933981 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DSGPRRYTIAALLSPYSYST T AVVTNPKE 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                         DSGPRRYTIAALLSPYSYSTTAVVTNPKE---

Chimpanzee                    DSGPRRYTIAALLSPYSYSTTAVVTIPKE

Mouse                         DSGHRHYTIAALLSPYSYSTTAVVSNPQN

Rat                           DSGHRHYTIAALLSPYSYSTTAVVSNPQN

Pig                           DSGRRHYTIAALLSPYSYSTTALVSSPKE

Bovine                        DSGPRHYTIAALLSPYSYSTTALVSSPKA

Rabbit                        DSGHRSYTIAALLSPFSYSTTAVVSNPQE

Sheep                         DSGLRHYTIAALLSPYSYSTTALVSSPKE

Chicken                       DSGHRHYTIAALLSPFSYSTTAVVSDPQE

Xenopus laevis                DAGHRHYTIAVLLTPYSFSSTAIVSEPHD

Xenopus tropicalis            DAGHRHYTIAVLLTPYSISSTAVVSEPHD

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	21 – 147	Transthyretin
Binding site	137 – 137
Mutagenesis	130 – 130	L -> M. Loss of tetramerization; when associated with M-107.
Beta strand	135 – 143

Literature citations
Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution.
Sebastiao M.P.; Lamzin V.; Saraiva M.J.; Damas A.M.;
J. Mol. Biol. 306:733-744(2001)
Cited for: X-RAY CRYSTALLOGRAPHY (1.1 ANGSTROMS) OF 30-144 OF VARIANT AMYLD1 MET-50 AND VARIANT CHICAGO MET-139 IN COMPLEX WITH L-THYROXINE; SUBUNIT; Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.
Harrison H.H.; Gordon E.D.; Nichols W.C.; Benson M.D.;
Am. J. Med. Genet. 39:442-452(1991)
Cited for: VARIANT CHICAGO MET-139; Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.
Lim A.; Prokaeva T.; McComb M.E.; O'Connor P.B.; Theberge R.; Connors L.H.; Skinner M.; Costello C.E.;
Anal. Chem. 74:741-751(2002)
Cited for: VARIANTS SER-26 AND MET-139; VARIANTS AMYLD1 ALA-58; LEU-61; SER-64 AND LEU-84; IDENTIFICATION BY MASS SPECTROMETRY; Genetic microheterogeneity of human transthyretin detected by IEF.
Altland K.; Benson M.D.; Costello C.E.; Ferlini A.; Hazenberg B.P.C.; Hund E.; Kristen A.V.; Linke R.P.; Merlini G.; Salvi F.; Saraiva M.J.; Singer R.; Skinner M.; Winter P.;
Electrophoresis 28:2053-2064(2007)
Cited for: VARIANTS AMYLD1 PRO-32; ILE-40; SER-44; ALA-50; MET-50; LEU-53; VAL-53; PRO-56; THR-65; ALA-67; ALA-69; ILE-69; ALA-80; LEU-84; LEU-88; ALA-91; TYR-97; PHE-98; SER-104; ASN-104; THR-104; ALA-114; GLY-117; ASN-126; MET-127; VAL-127; MET-131 AND ILE-142; VARIANTS ILE-33; SER-121 AND THR-129; VARIANT CHICAGO MET-139;

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.