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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Val91Ala

Transthyretin
Gene: TTR
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Variant information Variant position: help 91 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 Alanine (A) at position 91 (V91A, p.Val91Ala). 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 medium size and hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 91 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 ESGELHGLTTEEEFVEGIYK V EIDTKSYWKALGISPFHEHA 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                         ESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHA

Chimpanzee                    ESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHA

Mouse                         ESGELHGLTTDEKFVEGVYRVELDTKSYWKTLGISPFHEFA

Rat                           ESGELHGLTTDEKFTEGVYRVELDTKSYWKALGISPFHEYA

Pig                           EFGELHGLTTDEKFVEGIYKVELDTKSYWKALGISPFHEYA

Bovine                        ESGELHGLTTEDKFVEGLYKVELDTKSYWKSLGISPFHEFA

Rabbit                        KTGELHGLTTSEKFVEGVYKVELDTKSYWKALGISPFHEYA

Sheep                         DSGELHGLTTEDKFVEGLYKVELDTKSYWKSLGISPFHEYA

Chicken                       EFGEIHELTTEEQFVEGVYRVEFDTSSYWKGLGLSPFHEYA

Xenopus laevis                ELGEIHNLTTDEQFTEGVYKIEFATKAFWGKLGLSPFHEYV

Xenopus tropicalis            ELGEIHNIITDEQFTEGVYKIEFATKTFWRKLGLSPFHEYV
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 72 – 72 Phosphoserine
Mutagenesis 107 – 107 F -> M. Loss of tetramerization; when associated with M-130.
Beta strand 86 – 93



Literature citations
Transthyretin Ala-71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.
Almeida M.R.; Lopez-Andreu F.; Munar-Ques M.; Costa P.P.; Saraiva M.J.;
Hum. Mutat. 2:420-421(1993)
Cited for: VARIANT AMYLD1 ALA-91; A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
Benson M.D. II; Turpin J.C.; Lucotte G.; Zeldenrust S.; Lechevalier B.; Benson M.D.;
J. Med. Genet. 30:120-122(1993)
Cited for: VARIANT AMYLD1 ALA-91; 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.