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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Val50Leu

Transthyretin
Gene: TTR
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Variant information Variant position: help 50 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 Leucine (L) at position 50 (V50L, p.Val50Leu). 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 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: help In AMYLD1; amyloid polyneuropathy. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 50 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 CPLMVKVLDAVRGSPAINVA V HVFRKAADDTWEPFASGKTS 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                         CPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTS

Chimpanzee                    CPLMVKVLDAVRGSPAINVAVHVFKKAADETWEPFASGKTS

Mouse                         CPLMVKVLDAVRGSPAVDVAVKVFKKTSEGSWEPFASGKTA

Rat                           CPLMVKVLDAVRGSPAVDVAVKVFKKTADGSWEPFASGKTA

Pig                           CPLMVKVLDAVRGSPAVNVGVKVFKKAADGTWEPFALGKTS

Bovine                        CPLMVKVLDAVRGSPAANVGVKVFKKAADETWEPFASGKTS

Rabbit                        CPLMVKVLDAVRGSPAVDVSVHVFKKAADETWEPFASGKTS

Sheep                         CPLMVKVLDAVRGSPAANVGVKVFKKAADETWEPFASGKTS

Chicken                       CPLMVKVLDAVRGSPAANVAVKVFKKAADGTWQDFATGKTT

Xenopus laevis                CPLMVKVLDAVRGIPAANLLVNVFRQTESGKWEQITSGKTT

Xenopus tropicalis            CPLMVKVLDAVRGIPAANLLVQVFRNT-EGNWELISSGKTT
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 35 – 35
Modified residue 30 – 30 Sulfocysteine
Modified residue 62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
Beta strand 49 – 55



Literature citations
A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.
Murakami T.; Atsumi T.; Maeda S.; Tanase S.; Ishikawa K.; Mita S.; Kumamoto T.; Araki S.; Ando M.;
Biochem. Biophys. Res. Commun. 187:397-403(1992)
Cited for: VARIANT AMYLD1 LEU-50; Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
Tachibana N.; Tokuda T.; Yoshida K.; Taketomi T.; Nakazato M.; Li Y.F.; Masuda Y.; Ikeda S.;
Amyloid 6:282-288(1999)
Cited for: VARIANTS AMYLD1 LEU-50; VAL-53; ALA-58; ARG-70; GLY-117 AND SER-117; IDENTIFICATION BY MASS SPECTROMETRY;
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.