Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Val142Ile

Transthyretin
Gene: TTR
Feedback?
Variant information Variant position: help 142 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Valine (V) to Isoleucine (I) at position 142 (V142I, p.Val142Ile). 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: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 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: help In AMYLD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 142 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 147 The length of the canonical sequence.
Location on the sequence: help PRRYTIAALLSPYSYSTTAV V TNPKE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PRRYTIAALLSPYSYSTTAVVTNPKE---

Chimpanzee                    PRRYTIAALLSPYSYSTTAVVTIPKE

Mouse                         HRHYTIAALLSPYSYSTTAVVSNPQN

Rat                           HRHYTIAALLSPYSYSTTAVVSNPQN

Pig                           RRHYTIAALLSPYSYSTTALVSSPKE

Bovine                        PRHYTIAALLSPYSYSTTALVSSPKA

Rabbit                        HRSYTIAALLSPFSYSTTAVVSNPQE

Sheep                         LRHYTIAALLSPYSYSTTALVSSPKE

Chicken                       HRHYTIAALLSPFSYSTTAVVSDPQE

Xenopus laevis                HRHYTIAVLLTPYSFSSTAIVSEPHD

Xenopus tropicalis            HRHYTIAVLLTPYSISSTAVVSEPHD
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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
Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin.
Cornwell G.G. III; Sletten K.; Johansson B.; Westermark P.;
Biochem. Biophys. Res. Commun. 154:648-653(1988)
Cited for: PROTEIN SEQUENCE OF 21-147; VARIANT AMYLD1 ILE-142; Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
Lachmann H.J.; Booth D.R.; Booth S.E.; Bybee A.; Gilbertson J.A.; Gillmore J.D.; Pepys M.B.; Hawkins P.N.;
N. Engl. J. Med. 346:1786-1791(2002)
Cited for: VARIANTS AMYLD1 MET-50; LEU-53; VAL-53; VAL-58; GLU-67; ALA-80; SER-140 AND ILE-142; 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.