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UniProtKB/Swiss-Prot Q9UHN1: Variant p.Ala169Thr

DNA polymerase subunit gamma-2, mitochondrial
Gene: POLG2
Variant information

Variant position:  169
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 169 (A169T, p.Ala169Thr).
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

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



Sequence information

Variant position:  169
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  485
The length of the canonical sequence.

Location on the sequence:   SAETLREILQDKELSKEQLV  A FLENVLKTSGKLRENLLHGA
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                         SAETLREILQDKELSKEQLVAFLENVLKTSGKLRENLLHGA

Mouse                         SPESIREILQDREPSKEQLVAFLENLLKTSGKLRATLLHGA

Bovine                        SAETLREILQDKELSKEQLVAFLENLLNTSGKLRENLLHGA

Xenopus laevis                CTQHL------KELPRDQLVKWLEDPAGKLEFLRHELLYGA

Drosophila                    VKDH---------PRKAKCPTLLKHQSTCSGPTSNSL----



Literature citations

Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase.
Carrodeguas J.A.; Bogenhagen D.F.;
Nucleic Acids Res. 28:1237-1244(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-169;

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]; VARIANTS THR-169 AND ALA-416;

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.