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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96HY7: Variant p.Gly729Arg

2-oxoadipate dehydrogenase complex component E1
Gene: DHTKD1
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Variant information Variant position: help 729 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help 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: help 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: help -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: help In AAKAD; affects the overall activity of OADHC complex; affects assembly with DLST leading to impaired channeling of reaction intermediates. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 729 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 919 The length of the canonical sequence.
Location on the sequence: help SSCRIERFLQMCDSAEEGVD G DTVNMFVVHPTTPAQYFHLL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         SSCRIERFLQMCDSAEEG--VDGDTV-----NMFVVHPTTPAQYFHLL

Mouse                         SSCRIERFLQMCDSAEEG--VDSDTV-----NMFVVHPTTP

Rat                           SSCRIERFLQMCDSAEEG--VDSDTV-----NMFVVHPTTP

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

Zebrafish                     SSCRIERFLQLCDSKEEG--VDGDTV-----NMAVVNPTLP

Caenorhabditis elegans        SSCRMERFLQLCDSREDQTPVDGENV-----NMRVANPTTS

Drosophila                    SSCRIERFLQLCDSKETS--ADGDSV-----NVHIVNPTTP

Slime mold                    SSCRIERFLQLSDTEAVN--VKDDTLINQETNFYFINPSTP



Literature citations
Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism.
Zhang X.; Nemeria N.S.; Leandro J.; Houten S.; Lazarus M.; Gerfen G.; Ozohanics O.; Ambrus A.; Nagy B.; Brukh R.; Jordan F.;
J. Biol. Chem. 295:8078-8095(2020)
Cited for: FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; PATHWAY; VARIANTS AAKAD CYS-715 AND ARG-729; CHARACTERIZATION OF VARIANT AAKAD ARG-729; 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 AAKAD ARG-729; New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Stiles A.R.; Venturoni L.; Mucci G.; Elbalalesy N.; Woontner M.; Goodman S.; Abdenur J.E.;
JIMD Rep. 25:15-19(2016)
Cited for: VARIANTS AAKAD HIS-305; CYS-715 AND 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.