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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Phe64Ser

Transthyretin
Gene: TTR
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Variant information Variant position: help 64 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 Phenylalanine (F) to Serine (S) at position 64 (F64S, p.Phe64Ser). 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 Change from large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 64 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 PAINVAVHVFRKAADDTWEP F ASGKTSESGELHGLTTEEEF 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                         PAINVAVHVFRKAADDTWEPFASGKTSESGELHGLTTEEEF

Chimpanzee                    PAINVAVHVFKKAADETWEPFASGKTSESGELHGLTTEEEF

Mouse                         PAVDVAVKVFKKTSEGSWEPFASGKTAESGELHGLTTDEKF

Rat                           PAVDVAVKVFKKTADGSWEPFASGKTAESGELHGLTTDEKF

Pig                           PAVNVGVKVFKKAADGTWEPFALGKTSEFGELHGLTTDEKF

Bovine                        PAANVGVKVFKKAADETWEPFASGKTSESGELHGLTTEDKF

Rabbit                        PAVDVSVHVFKKAADETWEPFASGKTSKTGELHGLTTSEKF

Sheep                         PAANVGVKVFKKAADETWEPFASGKTSDSGELHGLTTEDKF

Chicken                       PAANVAVKVFKKAADGTWQDFATGKTTEFGEIHELTTEEQF

Xenopus laevis                PAANLLVNVFRQTESGKWEQITSGKTTELGEIHNLTTDEQF

Xenopus tropicalis            PAANLLVQVFRNT-EGNWELISSGKTTELGEIHNIITDEQF
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 74 – 74
Modified residue 62 – 62 4-carboxyglutamate; in a patient with Moyamoya disease
Modified residue 72 – 72 Phosphoserine
Beta strand 61 – 68



Literature citations
Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.
Klein C.J.; Nakumura M.; Jacobson D.R.; Lacy M.Q.; Benson M.D.; Petersen R.C.;
Neurology 51:1462-1464(1998)
Cited for: VARIANT SER-64; 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;
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.