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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99808: Variant p.Ala293Thr

Equilibrative nucleoside transporter 1
Gene: SLC29A1
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Variant information Variant position: help 293 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Alanine (A) to Threonine (T) at position 293 (A293T, p.Ala293Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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 a colorectal cancer sample; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 293 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 456 The length of the canonical sequence.
Location on the sequence: help SQPTNESHSIKAILKNISVL A FSVCFIFTITIGMFPAVTVE 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                         SQPTNESHSIKAILKNISVLAFSVCFIFTITIGMFPAVTVE

Mouse                         SPPTNRNQSIKAILKSICVPALSVCFIFTVTIGLFPAVTAE

Rat                           SLPANRNQSIKAILKSIWVLALSVCFIFTVTIGLFPAVTAE

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 2 – 456 Equilibrative nucleoside transporter 1
Transmembrane 292 – 311 Helical
Site 277 – 277 Not glycosylated
Site 288 – 288 Not glycosylated
Modified residue 273 – 273 Phosphoserine
Mutagenesis 277 – 277 N -> Q. No effect on glycosylation.
Mutagenesis 288 – 288 N -> Q. No effect on glycosylation.
Mutagenesis 297 – 297 C -> S. Loss of nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-333; S-378; S-414; S-416 and S-439. No change in nucleobase transport; when associated with S-87; S-193; S-213; S-222; S-333; S-378; S-416 and S-439.
Mutagenesis 308 – 308 P -> A. Reduction of the transport activity for adenosine.
Helix 282 – 306



Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-293 AND VAL-455;
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.