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UniProtKB/Swiss-Prot Q96HY7: Variant p.Gly729Arg

Probable 2-oxoglutarate dehydrogenase E1 component DHKTD1, mitochondrial
Gene: DHTKD1
Variant information

Variant position:  729
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Arginine (R) at position 729 (G729R, p.Gly729Arg).
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 glycine (G) 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

Involvement in disease:  2-aminoadipic 2-oxoadipic aciduria (AMOXAD) [MIM:204750]: A metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. {ECO:0000269|PubMed:23141293}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

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

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

Sequence information

Variant position:  729
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  919
The length of the canonical sequence.

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.


Mouse                         SSCRIERFLQMCDSAEEG--VDSDTV-----NMFVVHPTTP

Rat                           SSCRIERFLQMCDSAEEG--VDSDTV-----NMFVVHPTTP

Xenopus laevis                SSCRIERFLQMCDSTEEG--VDGDTV-----NMFVVHPTTP

Zebrafish                     SSCRIERFLQLCDSKEEG--VDGDTV-----NMAVVNPTLP


Drosophila                    SSCRIERFLQLCDSKETS--ADGDSV-----NVHIVNPTTP


Literature citations

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Danhauser K.; Sauer S.W.; Haack T.B.; Wieland T.; Staufner C.; Graf E.; Zschocke J.; Strom T.M.; Traub T.; Okun J.G.; Meitinger T.; Hoffmann G.F.; Prokisch H.; Koelker S.;
Am. J. Hum. Genet. 91:1082-1087(2012)
Cited for: VARIANT AMOXAD ARG-729;

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.