UniProtKB/Swiss-Prot Q14264: Variant p.Thr90Ile

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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: From Threonine (T) to Isoleucine (I) at position 90 (T90I, p.Thr90Ile). 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: Change from medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -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
Polymorphism: This envelope gene is polymorphic with at least five different alleles. A mutation introducing a premature stop codon instead of amino acid 223 is present in approximately 1% of the Caucasian population (PubMed:9525678). Additional information on the polymorphism described.
Other resources: Links to websites of interest for the variant.

• Variant rs6460219 [ dbSNP | Ensembl ]

Sequence information

Variant position: 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 604 The length of the canonical sequence.
Location on the sequence: VCDPGRGQPYVCYDPKSSPG T WFEIHVGSKEGDLLNQTKVF 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.
Sequence annotation in neighborhood: 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.

Type	Positions	Description
Chain	23 – 604	Endogenous retrovirus group 3 member 1 Env polyprotein
Chain	23 – 471	Surface protein
Glycosylation	105 – 105	N-linked (GlcNAc...) asparagine

Literature citations

The nucleotide sequence of the env gene from the human provirus ERV3 and isolation and characterization of an ERV3-specific cDNA.
Cohen M.; Powers M.; O'Connell C.; Kato N.;
Virology 147:449-458(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 41-604; VARIANTS ILE-90; SER-481 AND SER-569; Large number of polymorphic nucleotides and a termination codon in the env gene of the endogenous human retrovirus ERV3.
Rasmussen H.B.; Clausen J.;
Dis. Markers 14:127-133(1998)
Cited for: VARIANTS ILE-90; TYR-192; CYS-236; SER-481 AND SER-569; POLYMORPHISM;