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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43708: Variant p.Arg42Gly

Maleylacetoacetate isomerase
Gene: GSTZ1
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Variant information Variant position: help 42
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glycine (G) at position 42 (R42G, p.Arg42Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In allele GSTZ1*B and allele GSTZ1*C.
Other resources: help


Sequence information Variant position: help 42
Protein sequence length: help 216
Location on the sequence: help IALALKGIDYKTVPINLIKD R GQQFSKDFQALNPMKQVPTL
Residue conservation: help
Human                         IALALKGIDYKTVPINLIKDRGQQFSKDFQALNPMKQVPTL

Mouse                         IALALKGIDYEIVPINLIKDGGQQFTEEFQTLNPMKQVPAL

Rat                           IALALKGIDYEIVPINLIKDGGQQFSEEFQTLNPMKQVPAL

Caenorhabditis elegans        IALALKNVDYEYKTVDLLSEEAKSKLKE---INPAAKVPTF

Slime mold                    VALAYKKIKYEYKAIHLLKDGGQQKSDEYSKLNPMKAIPTL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 216 Maleylacetoacetate isomerase
Domain 4 – 87 GST N-terminal
Binding site 45 – 45
Binding site 59 – 59
Modified residue 32 – 32 N6-acetyllysine
Modified residue 57 – 57 N6-succinyllysine
Alternative sequence 1 – 55 Missing. In isoform 2.
Helix 40 – 42



Literature citations
Characterization of a fungal maleylacetoacetate isomerase gene and identification of its human homologue.
Fernandez-Canon J.M.; Penalva M.A.;
J. Biol. Chem. 273:329-337(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHARACTERIZATION; VARIANTS GLY-42 AND THR-82; Characterization and chromosome location of the gene GSTZ1 encoding the human zeta class glutathione transferase and maleylacetoacetate isomerase.
Blackburn A.C.; Woollatt E.; Sutherland G.R.; Board P.G.;
Cytogenet. Cell Genet. 83:109-114(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS GLU-32; GLY-42 AND THR-82; Gene structure, chromosomal location, and expression pattern of maleylacetoacetate isomerase.
Fernandez-Canon J.M.; Hejna J.; Reifsteck C.; Olson S.; Grompe M.;
Genomics 58:263-269(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS GLY-42 AND THR-82; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Ebert L.; Schick M.; Neubert P.; Schatten R.; Henze S.; Korn B.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS GLY-42 AND THR-82; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS GLU-32; GLY-42; THR-82 AND HIS-133; The DNA sequence and analysis of human chromosome 14.
Heilig R.; Eckenberg R.; Petit J.-L.; Fonknechten N.; Da Silva C.; Cattolico L.; Levy M.; Barbe V.; De Berardinis V.; Ureta-Vidal A.; Pelletier E.; Vico V.; Anthouard V.; Rowen L.; Madan A.; Qin S.; Sun H.; Du H.; Pepin K.; Artiguenave F.; Robert C.; Cruaud C.; Bruels T.; Jaillon O.; Friedlander L.; Samson G.; Brottier P.; Cure S.; Segurens B.; Aniere F.; Samain S.; Crespeau H.; Abbasi N.; Aiach N.; Boscus D.; Dickhoff R.; Dors M.; Dubois I.; Friedman C.; Gouyvenoux M.; James R.; Madan A.; Mairey-Estrada B.; Mangenot S.; Martins N.; Menard M.; Oztas S.; Ratcliffe A.; Shaffer T.; Trask B.; Vacherie B.; Bellemere C.; Belser C.; Besnard-Gonnet M.; Bartol-Mavel D.; Boutard M.; Briez-Silla S.; Combette S.; Dufosse-Laurent V.; Ferron C.; Lechaplais C.; Louesse C.; Muselet D.; Magdelenat G.; Pateau E.; Petit E.; Sirvain-Trukniewicz P.; Trybou A.; Vega-Czarny N.; Bataille E.; Bluet E.; Bordelais I.; Dubois M.; Dumont C.; Guerin T.; Haffray S.; Hammadi R.; Muanga J.; Pellouin V.; Robert D.; Wunderle E.; Gauguet G.; Roy A.; Sainte-Marthe L.; Verdier J.; Verdier-Discala C.; Hillier L.W.; Fulton L.; McPherson J.; Matsuda F.; Wilson R.; Scarpelli C.; Gyapay G.; Wincker P.; Saurin W.; Quetier F.; Waterston R.; Hood L.; Weissenbach J.;
Nature 421:601-607(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS GLU-32 AND GLY-42; 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]; VARIANTS GLU-32 AND GLY-42; 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 1); VARIANTS GLU-32 AND GLY-42; Discovery of a functional polymorphism in human glutathione transferase zeta by expressed sequence tag database analysis.
Blackburn A.C.; Tzeng H.F.; Anders M.W.; Board P.G.;
Pharmacogenetics 10:49-57(2000)
Cited for: VARIANTS GLU-32 AND GLY-42; FUNCTION; CATALYTIC ACTIVITY;
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.