UniProtKB/Swiss-Prot Q695T7: Variant p.Val252Ile

Sodium-dependent neutral amino acid transporter B(0)AT1
Gene: SLC6A19
Feedback?

Variant information Variant position:

252 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 Valine (V) to Isoleucine (I) at position 252 (V252I, p.Val252Ile). 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
Variant description:

Does not affect cell membrane localization; does not affect amino acid transport activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs7732589 [ dbSNP | Ensembl ]

Sequence information Variant position:

252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

634 The length of the canonical sequence.
Location on the sequence:

VVLTIFLIRGLTLKGATNGI V FLFTPNVTELAQPDTWLDAG 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                         VVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAG

Mouse                         VVLTIFLIRGLTLKGATNGIVFLFTPNITELSNPNTWLDAG

Rat                           VVLTIFLIRGLTLKGATNGIVFLFTPNITELSNPNTWLDAG

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 – 634	Sodium-dependent neutral amino acid transporter B(0)AT1
Topological domain	243 – 268	Extracellular
Glycosylation	258 – 258	N-linked (GlcNAc...) asparagine
Helix	251 – 255

Literature citations
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
Seow H.F.; Broeer S.; Broeer A.; Bailey C.G.; Potter S.J.; Cavanaugh J.A.; Rasko J.E.J.;
Nat. Genet. 36:1003-1007(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; VARIANTS HND ASN-173; GLN-240; PRO-242 AND LYS-501; CHARACTERIZATION OF VARIANTS HND ASN-173; GLN-240; PRO-242 AND LYS-501; VARIANTS GLN-240 AND ILE-252; CHARACTERIZATION OF VARIANT ILE-252; Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Camargo S.M.; Singer D.; Makrides V.; Huggel K.; Pos K.M.; Wagner C.A.; Kuba K.; Danilczyk U.; Skovby F.; Kleta R.; Penninger J.M.; Verrey F.;
Gastroenterology 136:872-882(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS HND THR-69; ARG-93; LEU-265 AND LEU-579; CHARACTERIZATION OF VARIANTS HND CYS-57; THR-69; ARG-93; PRO-242 AND LYS-501 AND PRO-579; CHARACTERIZATION OF VARIANTS GLN-240 AND ILE-252;

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.