UniProtKB/Swiss-Prot Q9BZD2: Variant p.Leu281Pro

Equilibrative nucleoside transporter 3
Gene: SLC29A3
Feedback?

Variant information Variant position:

281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Leucine (L) to Proline (P) at position 281 (L281P, p.Leu281Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Other resources:

Links to websites of interest for the variant.

Variant rs79737301 [ dbSNP | Ensembl ]

Sequence information Variant position:

281 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:

MRPVLAAHVFSGEEELPQDS L SAPSVASRFIDSHTPPLRPI 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                         MRPVLAAHVFSGEEELPQDSLSAPSVASRFIDSHTPPLRPI

Mouse                         MRPVAPVRVFSGEDNPSQDAPSASSVAPASRVMHTPPLGPI

Rat                           MRPVVPIHVFSSEDSPPRDAPSTSSVAPASRAVHTPPLGPI

Bovine                        MKPVWPT-VFSGEEQLPQDSPSPTSVAPGSSDPQTPPLGPI

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
Chain	1 – 475	Equilibrative nucleoside transporter 3
Topological domain	252 – 305	Cytoplasmic
Mutagenesis	268 – 268	H -> ADR. Decreased adenosine transport at pH 5.5.
Mutagenesis	268 – 268	H -> P. No change in adenosine transport at pH 5.5.
Mutagenesis	273 – 273	E -> A. No change in adenosine transport.
Mutagenesis	274 – 274	E -> A. No change in adenosine transport.
Mutagenesis	275 – 275	E -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis	279 – 279	D -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis	292 – 292	D -> A. Decreased adenosine transport at pH 5.5.
Mutagenesis	294 – 294	H -> APDR. No change in adenosine transport.

Literature citations
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.