Variant position: 116 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:
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 GSDILNYFESYLAVASTVPS MLCLVANFLLVNRVAVHIRVL
Mouse DMDILNYFESYLAVASTVPS LLFLVANFLLVNRVQVHVRVL
Rat DADILNYFESYLAVASTVPS LLFLVANFLLVNRIRVHVRVL
Bovine DSDILNYFESYLAVASTVPS VLCLALNFLLVNRVPIRVRVL
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
1 – 475 Equilibrative nucleoside transporter 3
106 – 126 Helical
1 – 146 Missing. In isoform 2.
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: SUBCELLULAR LOCATION; 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;
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.