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UniProtKB/Swiss-Prot Q9BZD2: Variant p.Gly437Arg

Equilibrative nucleoside transporter 3
Gene: SLC29A3
Variant information

Variant position:  437
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Arginine (R) at position 437 (G437R, p.Gly437Arg).
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 glycine (G) to large size and basic (R)
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

Variant description:  In HLAS; results in reduced nucleoside transport.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  437
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  475
The length of the canonical sequence.

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.





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.

Chain 1 – 475 Equilibrative nucleoside transporter 3
Topological domain 437 – 454 Cytoplasmic
Mutagenesis 427 – 427 G -> AFYT. Results in impaired nucleoside transport.

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)

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;

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Cliffe S.T.; Kramer J.M.; Hussain K.; Robben J.H.; de Jong E.K.; de Brouwer A.P.; Nibbeling E.; Kamsteeg E.J.; Wong M.; Prendiville J.; James C.; Padidela R.; Becknell C.; van Bokhoven H.; Deen P.M.; Hennekam R.C.; Lindeman R.; Schenck A.; Roscioli T.; Buckley M.F.;
Hum. Mol. Genet. 18:2257-2265(2009)
Cited for: VARIANTS HLAS ARG-116; ARG-437 AND ARG-449;

H syndrome: novel and recurrent mutations in SLC29A3.
Priya T.P.; Philip N.; Molho-Pessach V.; Busa T.; Dalal A.; Zlotogorski A.;
Br. J. Dermatol. 162:1132-1134(2010)
Cited for: VARIANTS HLAS CYS-134 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;

Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Ramot Y.; Sayama K.; Sheffer R.; Doviner V.; Hiller N.; Kaufmann-Yehezkely M.; Zlotogorski A.;
Int. J. Pediatr. Otorhinolaryngol. 74:825-827(2010)
Cited for: VARIANTS HLAS ARG-184 AND ARG-437;

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.
Morgan N.V.; Morris M.R.; Cangul H.; Gleeson D.; Straatman-Iwanowska A.; Davies N.; Keenan S.; Pasha S.; Rahman F.; Gentle D.; Vreeswijk M.P.; Devilee P.; Knowles M.A.; Ceylaner S.; Trembath R.C.; Dalence C.; Kismet E.; Koseoglu V.; Rossbach H.C.; Gissen P.; Tannahill D.; Maher E.R.;
PLoS Genet. 6:E1000833-E1000833(2010)
Cited for: VARIANT HLAS ARG-437; VARIANTS VAL-163; PRO-281 AND MET-407;

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.