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UniProtKB/Swiss-Prot P08294: Variant p.Ala58Thr

Extracellular superoxide dismutase [Cu-Zn]
Gene: SOD3
Variant information

Variant position:  58
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 Alanine (A) to Threonine (T) at position 58 (A58T, p.Ala58Thr).
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 small size and hydrophobic (A) to medium size and polar (T)
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:  The variant Gly-231 which is found in about 2.2% of individual displays a 10-fold increased plasma EC-SOD content due to reduced heparin-binding affinity and thus the impairment of its binding ability to endothelial cell surface.
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  58
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  240
The length of the canonical sequence.

Location on the sequence:   MYAKVTEIWQEVMQRRDDDG  A LHAACQVQPSATLDAAQPRV
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                         MYAKVTEIWQEVMQRRD----DDGALHAACQVQPSATLDAAQPRV

Mouse                         THAKVLEIWMELGRRRE---VDAAEMHAICRVQPSATLPPD

Rat                           THSKDLEIWMELGKQRE---ADAREMHAVCRVQPSAMLPPD

Rabbit                        THAKVTEIWQALTQQRAAQGEPAGALHAVCRVQPSATLDAA

Caenorhabditis elegans        --ARAYIFKAEAGK--------------------------I

Drosophila                    MPIQAIAYLIGPVQ-------------------------SD

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.

TypePositionsDescription
Chain 19 – 240 Extracellular superoxide dismutase [Cu-Zn]
Site 41 – 41 Not glycated


Literature citations

Isolation and sequence of complementary DNA encoding human extracellular superoxide dismutase.
Hjalmarsson K.; Marklund S.L.; Engstroem A.; Edlund T.;
Proc. Natl. Acad. Sci. U.S.A. 84:6340-6344(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PARTIAL PROTEIN SEQUENCE; VARIANT THR-58;

Extracellular superoxide dismutase (SOD3): tissue-specific expression, genomic characterization, and computer-assisted sequence analysis of the human EC SOD gene.
Folz R.J.; Crapo J.D.;
Genomics 22:162-171(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT THR-58;

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]; VARIANT THR-58;

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-58; THR-91 AND GLY-231;

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]; VARIANT THR-58;

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.