UniProtKB/Swiss-Prot P30048: Variant p.Ala142Gly

Thioredoxin-dependent peroxide reductase, mitochondrial
Gene: PRDX3
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Variant information Variant position:

142 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glycine (G) at position 142 (A142G, p.Ala142Gly). 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 glycine (G) 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 SCAR32; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs202061531 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FHDVNCEVVAVSVDSHFSHL A WINTPRKNGGLGHMNIALLS 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                         FHDVNCEVVAVSVDSHFSHLAWINTPRKNGGLGHMNIALLS

Mouse                         FHDVNCEVVAVSVDSHFSHLAWINTPRKNGGLGHMNITLLS

Rat                           FHDVNCEVVAVSVDSHFSHLAWINTPRKNGGLGHMNITLLS

Bovine                        FHDVNCEVVAVSVDSHFSHLAWINTPRKNGGLGHMNIALLS

Drosophila                    FHDINTEVLGVSVDSHFSHLTWCNVDRKNGGVGQLKYPLLS

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	62 – 256	Thioredoxin-dependent peroxide reductase, mitochondrial
Domain	63 – 221	Thioredoxin
Modified residue	146 – 146	Phosphothreonine
Mutagenesis	136 – 136	S -> E. Forms obligate homodimers under reducing and oxidizing conditions; does not form dodecamer rings under reducing conditions.
Mutagenesis	139 – 139	S -> C. Forms predominantly dodecamer rings.
Mutagenesis	146 – 146	T -> A. Impairs phosphorylation.
Helix	137 – 144

Literature citations
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Rebelo A.P.; Eidhof I.; Cintra V.P.; Guillot-Noel L.; Pereira C.V.; Timmann D.; Traschuetz A.; Schoels L.; Coarelli G.; Durr A.; Anheim M.; Tranchant C.; van de Warrenburg B.; Guissart C.; Koenig M.; Howell J.; Moraes C.T.; Schenck A.; Stevanin G.; Zuechner S.; Synofzik M.;
Brain 144:1467-1481(2021)
Cited for: INVOLVEMENT IN SCAR32; VARIANTS SCAR32 GLY-142; 170-ARG--GLN-256 DEL AND ASN-202; FUNCTION; SUBCELLULAR LOCATION;

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.