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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BZD2: Variant p.Gly427Ser

Equilibrative nucleoside transporter 3
Gene: SLC29A3
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Variant information Variant position: help 427 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 Glycine (G) to Serine (S) at position 427 (G427S, p.Gly427Ser). 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 glycine (G) to small size and polar (S) 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 HLAS; almost total loss of nucleoside transport. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 427 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 475 The length of the canonical sequence.
Location on the sequence: help VVFQSDVYPALLSSLLGLSN G YLSTLALLYGPKIVPRELAE 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                         VVFQSDVYPALLSSLLGLSNGYLSTLALLYGPKIVPRELAE

Mouse                         VLFQSDIYPVLFTCLLGLSNGYLSTLVLIYGPKIVPRELAE

Rat                           VLFQSDIYPILFTCLLGLSNGYLSTLVLMYGPKIVPRELAE

Bovine                        VLFQSDVYPVLFTSLLGLSNGYLSTLALIYGPKIVPRELAE
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 1 – 475 Equilibrative nucleoside transporter 3
Transmembrane 416 – 436 Helical
Site 447 – 447 Important for acidic pH-dependent nucleoside transporter activity. Acts as a pH sensor
Mutagenesis 412 – 412 D -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis 419 – 419 S -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis 427 – 427 G -> AFYT. Results in impaired nucleoside transport.
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.



Literature citations
Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.
Kang N.; Jun A.H.; Bhutia Y.D.; Kannan N.; Unadkat J.D.; Govindarajan R.;
J. Biol. Chem. 285:28343-28352(2010)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; MISCELLANEOUS; MUTAGENESIS OF GLY-427; CHARACTERIZATION OF VARIANTS HLAS ARG-116; SER-427; ARG-437 AND ARG-449; The H syndrome is caused by mutations in the nucleoside transporter hENT3.
Molho-Pessach V.; Lerer I.; Abeliovich D.; Agha Z.; Abu Libdeh A.; Broshtilova V.; Elpeleg O.; Zlotogorski A.;
Am. J. Hum. Genet. 83:529-534(2008)
Cited for: VARIANTS HLAS SER-427 AND ARG-437; Expanding the clinical spectrum of SLC29A3 gene defects.
Spiegel R.; Cliffe S.T.; Buckley M.F.; Crow Y.J.; Urquhart J.; Horovitz Y.; Tenenbaum-Rakover Y.; Newman W.G.; Donnai D.; Shalev S.A.;
Eur. J. Med. Genet. 53:309-313(2010)
Cited for: VARIANTS HLAS SER-427 AND ARG-437;
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.