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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BZD2: Variant p.Met116Arg

Equilibrative nucleoside transporter 3
Gene: SLC29A3
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Variant information Variant position: help 116 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 Methionine (M) to Arginine (R) at position 116 (M116R, p.Met116Arg). 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 medium size and hydrophobic (M) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In HLAS; partially retained in the endoplasmic reticulum; results in reduced 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 116 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 GSDILNYFESYLAVASTVPS M LCLVANFLLVNRVAVHIRVL 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                         GSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVL

Mouse                         DMDILNYFESYLAVASTVPSLLFLVANFLLVNRVQVHVRVL

Rat                           DADILNYFESYLAVASTVPSLLFLVANFLLVNRIRVHVRVL

Bovine                        DSDILNYFESYLAVASTVPSVLCLALNFLLVNRVPIRVRVL
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 106 – 126 Helical
Alternative sequence 1 – 146 Missing. In isoform 2.
Mutagenesis 98 – 98 D -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis 104 – 104 E -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis 132 – 132 H -> AD. Decreased adenosine transport at pH5.5.
Mutagenesis 132 – 132 H -> PR. No change in adenosine transport at pH5.5.



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; 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;
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.