UniProtKB/Swiss-Prot P54098: Variant p.Arg193Gln

DNA polymerase subunit gamma-1
Gene: POLG
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Variant information Variant position:

193 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 Arginine (R) to Glutamine (Q) at position 193 (R193Q, p.Arg193Gln). 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 (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 poly-Gln region seems to be polymorphic. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs3176162 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1239 The length of the canonical sequence.
Location on the sequence:

EGWTRYGPEGEAVPVAIPEE R ALVFDVEVCLAEGTCPTLAV 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                         EGWTRYGPE-GEAVPVAIPEERALVFDVEVCLAEGTCPTLAV

Mouse                         EGWTRYGPE-GEAEPVAIPEERALVFDVEVCLAEGTCPTLA

Rat                           EGWTRYGPE-GEAEPVAIPEERALVFDVEVCLAEGTCPTLA

Xenopus laevis                SGWTRYTAT-GEKELVDFPDEKAMVFDVEVCVTEGCCPTLA

Drosophila                    TGWTAYDPEDGTATPVDHPLEKGLVFDVEVCVSEGQAPVLA

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	1 – 1239	DNA polymerase subunit gamma-1
Active site	198 – 198	Exonuclease activity
Mutagenesis	198 – 198	D -> A. Abolishes exonuclease activity; when associated with A-200. Decreases polymerase exonucleolytic proofreading by 30-fold for the T:G mismatch and by 14-fold for the A:A mismatch; when associated with A-200. Significantly increases mitochondrial DNA mutation frequency. Does not affect DNA polymerase activity.
Mutagenesis	200 – 200	E -> A. Abolishes exonuclease activity; when associated with A-198. Decreases polymerase exonucleolytic proofreading by 30-fold for the T:G mismatch and by 14-fold for the A:A mismatch; when associated with A-198.
Beta strand	193 – 201

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-55 INS; GLN-193; CYS-546; LYS-662; TRP-1142; GLY-1143; CYS-1146 AND HIS-1236;

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.