UniProtKB/Swiss-Prot Q9BZJ4: Variant p.Phe247Leu

Probable mitochondrial glutathione transporter SLC25A39
Gene: SLC25A39
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Variant information Variant position:

247 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 Phenylalanine (F) to Leucine (L) at position 247 (F247L, p.Phe247Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs2011951 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VPFSALYWFNYELVKSWLNG F RPKDQTSVGMSFVAGGISGT 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                         VPFSALYWFNYELVKSWLNGFRPKDQTSVGMSFVAGGISGT

Mouse                         VPFSALYWFNYELVKSWLSGLRPKDQTSVGISFVAGGISGM

Rat                           VPFSALYWFNYELVKSQLNGPRQKEQTSVGISFVAGGISGM

Bovine                        VPFSALYWFNYELVKSWLSGLRPKDQTSVGISFVAGGISGM

Zebrafish                     VPFSALYWFNYELVKAQLCEHYRTPQASFTISFTAGAVSGA

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 – 359	Probable mitochondrial glutathione transporter SLC25A39

Literature citations
Overexpression of the human 2-oxoglutarate carrier lowers mitochondrial membrane potential in HEK-293 cells: contrast with the unique cold-induced mitochondrial carrier CGI-69.
Yu X.X.; Lewin D.A.; Zhong A.; Brush J.; Schow P.W.; Sherwood S.W.; Pan G.; Adams S.H.;
Biochem. J. 353:369-375(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT LEU-247; Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
Wiemann S.; Weil B.; Wellenreuther R.; Gassenhuber J.; Glassl S.; Ansorge W.; Boecher M.; Bloecker H.; Bauersachs S.; Blum H.; Lauber J.; Duesterhoeft A.; Beyer A.; Koehrer K.; Strack N.; Mewes H.-W.; Ottenwaelder B.; Obermaier B.; Tampe J.; Heubner D.; Wambutt R.; Korn B.; Klein M.; Poustka A.;
Genome Res. 11:422-435(2001)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT LEU-247; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT LEU-247; 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] (ISOFORMS 1 AND 2); VARIANT LEU-247; Functional prediction of the coding sequences of 79 new genes deduced by analysis of cDNA clones from human fetal liver.
Zhang C.; Yu Y.; Zhang S.; Wei H.; Zhang Y.; Zhou G.; Bi J.; Liu M.; He F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-359 (ISOFORM 2); VARIANT LEU-247;

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.