UniProtKB/Swiss-Prot Q9BZD2: Variant p.Val452Glu

Equilibrative nucleoside transporter 3
Gene: SLC29A3
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Variant information Variant position:

452 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 Valine (V) to Glutamate (E) at position 452 (V452E, p.Val452Glu). 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 hydrophobic (V) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Other resources:

Links to websites of interest for the variant.

Variant rs999940 [ dbSNP | Ensembl ]

Sequence information Variant position:

452 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

475 The length of the canonical sequence.
Location on the sequence:

LALLYGPKIVPRELAEATGV V MSFYVCLGLTLGSACSTLLV 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLV

Mouse                         LVLIYGPKIVPRELAEATSVVMLFYMSVGLMLGSACAALLE

Rat                           LVLMYGPKIVPRELAEATSVVMLFYMSLGLMLGSACAALLE

Bovine                        LALIYGPKIVPRELAEATGVVMTFYMGLGLVLGSACSALLV

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	1 – 475	Equilibrative nucleoside transporter 3
Topological domain	437 – 454	Cytoplasmic
Site	447 – 447	Important for acidic pH-dependent nucleoside transporter activity. Acts as a pH sensor
Mutagenesis	444 – 444	E -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis	447 – 447	E -> A. Decreased adenosine transport at pH 5.5. Partial loss of acidic pH-dependent activity resulting in emergence of adenosine transport at pH 7.4. Decreased nucleoside transport at pH 5.5; when associated with A-219. Complete loss of acidic pH-dependent activity resulting in full nucleoside transport at pH 7.4 as observed at pH 5.5; when associated with A-219.
Mutagenesis	469 – 469	T -> A. Decreased adenosine transport at pH 5.5.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.