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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02766: Variant p.Val40Ile

Transthyretin
Gene: TTR
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Variant information Variant position: help 40 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 40 (V40I, p.Val40Ile). 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; late-onset amyloid polyneuropathy with carpal tunnel syndrome. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 40 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 AGPTGTGESKCPLMVKVLDA V RGSPAINVAVHVFRKAADDT 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                         AG-PT----GTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDT

Chimpanzee                    AG-PT----GTGESKCPLMVKVLDAVRGSPAINVAVHVFKK

Mouse                         AG-PA----GAGESKCPLMVKVLDAVRGSPAVDVAVKVFKK

Rat                           AG-PG----GAGESKCPLMVKVLDAVRGSPAVDVAVKVFKK

Pig                           AG-PA----GAGESKCPLMVKVLDAVRGSPAVNVGVKVFKK

Bovine                        AG-SV----GAGEPKCPLMVKVLDAVRGSPAANVGVKVFKK

Rabbit                        -G-PV----GTGDSKCPLMVKVLDAVRGSPAVDVSVHVFKK

Sheep                         AS-PA----GAGESKCPLMVKVLDAVRGSPAANVGVKVFKK

Chicken                       AA-PL-VSHGSVDSKCPLMVKVLDAVRGSPAANVAVKVFKK

Xenopus laevis                AAPPGHASHGEADSKCPLMVKVLDAVRGIPAANLLVNVFRQ

Xenopus tropicalis            AA-PGHVSHGEADSKCPLMVKVLDAVRGIPAANLLVQVFRN
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
Turn 39 – 42



Literature citations
Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.
Jacobson D.R.; Pan T.; Kyle R.A.; Buxbaum J.N.;
Hum. Mutat. 9:83-85(1997)
Cited for: VARIANT AMYLD1 ILE-40; 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.