Variant position: 407 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 TCLIPLFVLCNYQPRVHLKT VVFQSDVYPALLSSLLGLSNG
Mouse FCLVPLFLLCNYQPRSHLTK VLFQSDIYPVLFTCLLGLSNG
Rat VCLVPLFLLCNYQPRSHLTL VLFQSDIYPILFTCLLGLSNG
Bovine TCFVPLFVFCNYQPRGHLHT VLFQSDVYPVLFTSLLGLSNG
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
399 – 415 Extracellular
427 – 427 G -> AFYT. Results in impaired nucleoside transport.
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;
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