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UniProtKB/Swiss-Prot P00441: Variant p.Ala146Thr

Superoxide dismutase [Cu-Zn]
Gene: SOD1
Variant information

Variant position:  146
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 146 (A146T, p.Ala146Thr).
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

Variant description:  In ALS1.
Any additional useful information about the variant.

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

Sequence information

Variant position:  146
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  154
The length of the canonical sequence.

Location on the sequence:   DLGKGGNEESTKTGNAGSRL  A CGVIGIAQ
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.

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.

Chain 2 – 154 Superoxide dismutase [Cu-Zn]
Modified residue 137 – 137 N6-acetyllysine; alternate
Modified residue 137 – 137 N6-succinyllysine; alternate
Disulfide bond 58 – 147
Mutagenesis 134 – 134 E -> Q. Abolishes dimerization; when associated with E-50 and E-51.
Mutagenesis 147 – 147 C -> A. Exhibits very slow copper acquisition.
Mutagenesis 147 – 147 C -> S. Enhances formation of fibrillar aggregates in the absence of bound zinc; when associated with S-7; S-58 and S-112.
Beta strand 143 – 149

Literature citations

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
Sapp P.C.; Rosen D.R.; Hosler B.A.; Esteban J.; McKenna-Yasek D.; O'Regan J.P.; Horvitz H.R.; Brown R.H. Jr.;
Neuromuscul. Disord. 5:353-357(1995)
Cited for: VARIANTS ALS1 SER-145; THR-146 AND PHE-LEU-GLN-119 INS;

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.