UniProtKB/Swiss-Prot Q07837: Variant p.Met618Ile

Amino acid transporter heavy chain SLC3A1
Gene: SLC3A1
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Variant information Variant position:

618 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 Methionine (M) to Isoleucine (I) at position 618 (M618I, p.Met618Ile). 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:

1 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 rs698761 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NFGESTLLNLHNMISGLPAK M RIRLSTNSADKGSKVDTSGI 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                         NFGE-STLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGI

Mouse                         NFGESSTVLNLQGIISDLPPELRIRLSTNSASKGSAVDTRA

Rat                           NFGESSTVLNLQETISDVPTKLRIRLSTNPASKGSDVDTHA

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 – 685	Amino acid transporter heavy chain SLC3A1
Topological domain	109 – 685	Extracellular
Disulfide bond	571 – 666
Alternative sequence	392 – 685	Missing. In isoform C.
Alternative sequence	503 – 685	Missing. In isoform E.
Alternative sequence	552 – 685	Missing. In isoform G.
Alternative sequence	565 – 685	Missing. In isoform F.
Beta strand	616 – 625

Literature citations
Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport.
Lee W.-S.; Wells R.G.; Sabbag R.V.; Mohandas T.K.; Hediger M.A.;
J. Clin. Invest. 91:1959-1963(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); FUNCTION; TISSUE SPECIFICITY; VARIANT ILE-618; Effects of truncation of the COOH-terminal region of a Na+-independent neutral and basic amino acid transporter on amino acid transport in Xenopus oocytes.
Miyamoto K.; Segawa H.; Tatsumi S.; Katai K.; Yamamoto H.; Taketani Y.; Haga H.; Morita K.; Takeda E.;
J. Biol. Chem. 271:16758-16763(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); VARIANT ILE-618; FUNCTION; Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.
Endsley J.K.; Phillips J.A. III; Hruska K.A.; Denneberg T.; Carlson J.; George A.L. Jr.;
Kidney Int. 51:1893-1899(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ILE-618; VARIANTS CSNU TRP-452; HIS-461 AND THR-467; Human cystinuria-related transporter: localization and functional characterization.
Mizoguchi K.; Cha S.H.; Chairoungdua A.; Kim J.Y.; Shigeta Y.; Matsuo H.; Fukushima J.; Awa Y.; Akakura K.; Goya T.; Ito H.; Endou H.; Kanai Y.;
Kidney Int. 59:1821-1833(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); FUNCTION; VARIANT ILE-618; The 2p21 deletion syndrome: characterization of the transcription content.
Parvari R.; Gonen Y.; Alshafee I.; Buriakovsky S.; Regev K.; Hershkovitz E.;
Genomics 86:195-211(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B; C; D; E; F AND G); ALTERNATIVE SPLICING; VARIANT ILE-618; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A); VARIANT ILE-618; Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.
Gasparini P.; Calonge M.J.; Bisceglia L.; Purroy J.; Dianzani I.; Notarangelo A.; Rousaud F.; Gallucci M.; Testar X.; Ponzone A.; Estivill X.; Zorzano A.; Palacin M.; Nunes V.; Zelante L.;
Am. J. Hum. Genet. 57:781-788(1995)
Cited for: VARIANTS CSNU TRP-365; HIS-582 AND SER-648; VARIANT ILE-618; Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
Harnevik L.; Fjellstedt E.; Molbaek A.; Tiselius H.-G.; Denneberg T.; Soederkvist P.;
Hum. Mutat. 18:516-525(2001)
Cited for: VARIANTS CSNU CYS-151; LYS-253; HIS-362; ARG-398; HIS-461; THR-467; VAL-481; LYS-482; ARG-510; THR-584; SER-599 AND GLU-600; VARIANT ILE-618;

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.