UniProtKB/Swiss-Prot Q16854: Variant p.Leu266Arg

Deoxyguanosine kinase, mitochondrial
Gene: DGUOK
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Variant information Variant position:

266 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 Leucine (L) to Arginine (R) at position 266 (L266R, p.Leu266Arg). 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 medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

Reduction of activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs886037846 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PVLVLDVNDDFSEEVTKQED L MREVNTFVKNL 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                         PVLVLDVNDDFSEEVTKQEDLMREVNTFVKNL

Mouse                         PVLVLDVTEDFSENAARQEELMGQVNTFMRNL

Xenopus laevis                PVLLLNVEEDFENNSAAGDELNNRVKAFVAGL

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	40 – 277	Deoxyguanosine kinase, mitochondrial
Modified residue	275 – 275	N6-acetyllysine
Alternative sequence	90 – 277	Missing. In isoform 6.
Helix	260 – 275

Literature citations
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
Mousson de Camaret B.; Taanman J.W.; Padet S.; Chassagne M.; Mayencon M.; Clerc-Renaud P.; Mandon G.; Zabot M.T.; Lachaux A.; Bozon D.;
Biochem. J. 402:377-385(2007)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT NCPH1 SER-46; CHARACTERIZATION OF VARIANT ARG-266;

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.