UniProtKB/SwissProt variant VAR

Variant information

Variant position:

334

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Leucine (L) to Arginine (R) at position 334 (L334R, p.Leu334Arg).

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:

Change from medium size and hydrophobic (L) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

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:

In LPI; failed to induce cationic amino acid transport activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs72552272 [ dbSNP | Ensembl ]

Sequence information

Variant position:

334

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

511

The length of the canonical sequence.

Location on the sequence:

LSVALSCFGGLNASIVAASR L FFVGSREGHLPDAICMIHVE

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                         LSVALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVE

Mouse                         VAVAFSCFGGLNASIVAASRLLFVGSREGHLPDAICMVHVE

Rat                           LAVALSCFGGLNASIVAASRLLFVGSREGHLPDAICMIHVE

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 – 511	Y+L amino acid transporter 1
Glycosylation	325 – 325	N-linked (GlcNAc...) asparagine

Literature citations

Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
Torrents D.; Estevez R.; Pineda M.; Fernandez E.; Lloberas J.; Shi Y.-B.; Zorzano A.; Palacin M.;
J. Biol. Chem. 273:32437-32445(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBUNIT; TISSUE SPECIFICITY; VARIANT LPI ARG-334;

Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Torrents D.; Mykkaenen J.; Pineda M.; Feliubadalo L.; Estevez R.; de Cid R.; Sanjurjo P.; Zorzano A.; Nunes V.; Huoponen K.; Reinikainen A.; Simell O.; Savontaus M.-L.; Aula P.; Palacin M.;
Nat. Genet. 21:293-296(1999)
Cited for: VARIANT LPI ARG-334; CHARACTERIZATION OF VARIANT LPI ARG-334;

Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
Mykkaenen J.; Torrents D.; Pineda M.; Camps M.; Yoldi M.E.; Horelli-Kuitunen N.; Huoponen K.; Heinonen M.; Oksanen J.; Simell O.; Savontaus M.-L.; Zorzano A.; Palacin M.; Aula P.;
Hum. Mol. Genet. 9:431-438(2000)
Cited for: VARIANTS LPI VAL-54 AND ASP-338; CHARACTERIZATION OF VARIANTS LPI VAL-54 AND ARG-334;

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo M.P.; Andria G.; Sebastio G.;
Hum. Mutat. 29:14-21(2008)
Cited for: VARIANTS LPI ILE-5; GLU-36 DEL; LYS-50; LEU-53; VAL-54; PRO-124; PRO-140; LEU-152; ILE-188; GLU-191; PHE-238; ASP-251; PRO-261; MET-333; ARG-334; ASP-338; TYR-365; ARG-386 AND PRO-489;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UM01: Variant p.Leu334Arg