UniProtKB/Swiss-Prot P09488: Variant p.Lys173Asn

Glutathione S-transferase Mu 1
Gene: GSTM1
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Variant information Variant position:

173 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 Lysine (K) to Asparagine (N) at position 173 (K173N, p.Lys173Asn). 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 basic (K) to medium size and polar (N) 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
Polymorphism:

There are two alleles; GSTM1A and GSTM1B which differ in position 173. The sequence shown is that of allele GSTM1A. Additional information on the polymorphism described.
Variant description:

In allele GSTM1B. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1065411 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ITFVDFLVYDVLDLHRIFEP K CLDAFPNLKDFISRFEGLEK 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                         ITFVDFLVYDVLDLHRIFEPKCLDAFPNLKDFISRFEGLEK

Mouse                         VTYVDFLAYDILDQYRMFEPKCLDAFPNLRDFLARFEGLKK

Rat                           VTYVDFLAYDILDQYHIFEPKCLDAFPNLKDFLARFEGLKK

Bovine                        LTYVDFLVYDVLDMHRIFEPKCLDAFPNLKDFISRFEGLKK

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	2 – 218	Glutathione S-transferase Mu 1
Domain	90 – 208	GST C-terminal
Alternative sequence	153 – 189	Missing. In isoform 2.
Turn	172 – 177

Literature citations
The human liver glutathione S-transferase gene superfamily: expression and chromosome mapping of an Hb subunit cDNA.
Dejong J.L.; Chang C.M.; Whang Peng J.; Knutsen T.; Tu C.-P.D.;
Nucleic Acids Res. 16:8541-8554(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASN-173; Submission
Chen P.; Wu Y.; Zhang C.; Han L.; Wu Y.; Xie D.; Chen L.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ASN-173; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Halleck A.; Ebert L.; Mkoundinya M.; Schick M.; Eisenstein S.; Neubert P.; Kstrang K.; Schatten R.; Shen B.; Henze S.; Mar W.; Korn B.; Zuo D.; Hu Y.; LaBaer J.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ASN-173; Deduced amino acid sequence, gene structure and chromosomal location of a novel human class Mu glutathione S-transferase, GSTM4.
Zhong S.; Spurr N.K.; Hayes J.D.; Wolf C.R.;
Biochem. J. 291:41-50(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-189 (ISOFORM 1); VARIANT ASN-173;

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.