ClinVar Genomic variation as it relates to human health
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic(3); Likely pathogenic(8); Uncertain significance(5)
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
Variation ID: 39564 Accession: VCV000039564.47
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10p14 10: 12112930 (GRCh38) [ NCBI UCSC ] 10: 12154929 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 31, 2016 May 1, 2024 Feb 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_018706.7:c.2185G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061176.4:p.Gly729Arg missense NC_000010.11:g.12112930G>A NC_000010.10:g.12154929G>A NG_033248.1:g.49014G>A Q96HY7:p.Gly729Arg - Protein change
- G729R
- Other names
- DHTKD1, GLY729ARG (rs117225135)
- NM_018706.6:c.2185G>A(p.Gly729Arg)
- Canonical SPDI
- NC_000010.11:12112929:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00080 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
1000 Genomes Project 0.00080
1000 Genomes Project 30x 0.00094
Exome Aggregation Consortium (ExAC) 0.00156
The Genome Aggregation Database (gnomAD), exomes 0.00166
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00177
The Genome Aggregation Database (gnomAD) 0.00190
Trans-Omics for Precision Medicine (TOPMed) 0.00192
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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DHTKD1 | - | - |
GRCh38 GRCh37 |
814 | 869 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic/Likely pathogenic (8) |
criteria provided, multiple submitters, no conflicts
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Jan 31, 2024 | RCV000032764.30 | |
Conflicting interpretations of pathogenicity (6) |
criteria provided, conflicting classifications
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Feb 1, 2024 | RCV000238689.35 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Jun 28, 2022 | RCV002513307.10 | |
Uncertain significance (1) |
no assertion criteria provided
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Jan 6, 2016 | RCV003447099.1 | |
Conflicting interpretations of pathogenicity (2) |
criteria provided, conflicting classifications
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May 4, 2022 | RCV000791040.12 | |
Uncertain significance (1) |
criteria provided, single submitter
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Nov 11, 2016 | RCV004017273.1 | |
Likely pathogenic (1) |
no assertion criteria provided
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Nov 15, 2022 | RCV003319173.8 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Likely pathogenic
(Apr 16, 2018)
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criteria provided, single submitter
Method: curation
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2-aminoadipic 2-oxoadipic aciduria
Affected status: unknown
Allele origin:
germline
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SIB Swiss Institute of Bioinformatics
Accession: SCV000787452.1
First in ClinVar: Jul 21, 2018 Last updated: Jul 21, 2018 |
Comment:
This variant is interpreted as a Likely Pathogenic, for 2-aminoadipic 2-oxoadipic aciduria, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from … (more)
This variant is interpreted as a Likely Pathogenic, for 2-aminoadipic 2-oxoadipic aciduria, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM6 => Assumed de novo, but without confirmation of paternity and maternity. PM3-Supporting => PM3 downgraded in strength to Supporting. PS3-Moderate => PS3 downgraded in strength to Moderate. (less)
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Likely pathogenic
(Aug 20, 2021)
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criteria provided, single submitter
Method: clinical testing
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2-aminoadipic 2-oxoadipic aciduria
Affected status: unknown
Allele origin:
unknown
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Illumina Laboratory Services, Illumina
Accession: SCV002034773.1
First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
Comment:
The DHTKD1 c.2185G>A (p.Gly729Arg) variant is a missense variant that has been reported in a total of seven individuals with alpha-aminoadipic and alpha-ketoadipic aciduria, including … (more)
The DHTKD1 c.2185G>A (p.Gly729Arg) variant is a missense variant that has been reported in a total of seven individuals with alpha-aminoadipic and alpha-ketoadipic aciduria, including in a compound heterozygous state in six, including in one where the variant arose de novo, and in a heterozygous state without a second identified allele in one (Danhauser et al. 2012; Hagen et al. 2015; Stiles et al. 2016). One of the individuals who was compound heterozygous presented only with elevated metabolites and biotinidase deficiency; all others presented with more severe phenotypes that included features such as developmental delay, speech delay, intellectual disability, microcephaly, and seizures. Control data are unavailable for this variant, which is reported in the Genome Aggregation Database at a frequency of 0.002748 in the European (non-Finnish) population (version 2.1.1) and was identified in one individual in a homozygous state (version 3.1.1). The higher than expected allele frequency and the homozygous individual may be consistent with variable disease expressivity. In vitro analysis in fibroblasts from patients reported by Danhauser et al. (2012) showed elevated levels of 2-oxoadipate in cells and media when compared to wildtype control fibroblasts, and expression of wildtype DHTKD1 in patient fibroblasts rescued the phenotype and decreased the 2-oxoadipate concentrations to levels consistent with control fibroblasts. Zhang et al. (2020) demonstrated that the p.Gly729Arg variant causes a 50-fold decrease in catalytic efficiency for NADH production when assembled into the 2-oxoadipate dehydrogenase complex (OADHc) in vitro, and impacts the assembly of 2-oxoadipate dehydrogenase with dihydrolipoamide succinyl-transferase, leading to impaired channeling of OADHc intermediates. Bezerra et al. (2020) found that the p.Gly729Arg variant does not impact protein thermostability or overall protein stability. Based on the evidence, the p.Gly729Arg variant is classified as likely pathogenic for alpha-aminoadipic and alpha-ketoadipic aciduria. (less)
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Pathogenic
(Jun 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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2-aminoadipic 2-oxoadipic aciduria
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002555875.1
First in ClinVar: Aug 08, 2022 Last updated: Aug 08, 2022 |
Comment:
Variant summary: DHTKD1 c.2185G>A (p.Gly729Arg) results in a non-conservative amino acid change located in the Transketolase-like, pyrimidine-binding domain of the encoded protein sequence. Four of … (more)
Variant summary: DHTKD1 c.2185G>A (p.Gly729Arg) results in a non-conservative amino acid change located in the Transketolase-like, pyrimidine-binding domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.0017 in 248268 control chromosomes. c.2185G>A has been reported in the literature in individuals affected with 2-Aminoadipic 2-Oxoadipic Aciduria. These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity in catalytic efficiency for NADH production. Twelve clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (pathogenic/likely pathogenic n=9, VUS n=3). Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Likely pathogenic
(Jul 27, 2015)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
unknown
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia
Accession: SCV000297287.3
First in ClinVar: Jul 31, 2016 Last updated: Dec 24, 2022 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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2-aminoadipic 2-oxoadipic aciduria
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001522987.2
First in ClinVar: Mar 22, 2021 Last updated: Mar 18, 2023 |
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Likely pathogenic
(Oct 02, 2023)
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criteria provided, single submitter
Method: clinical testing
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2-aminoadipic 2-oxoadipic aciduria
Affected status: yes
Allele origin:
germline
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Clinical Genomics Laboratory, Washington University in St. Louis
Accession: SCV004177074.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Comment:
The DHTKD1 c.2185G>A (p.Gly729Arg) variant has been reported in seven individuals affected with alpha-aminoadipic and alpha ketoadipic aciduria (Danhauser K et al., PMID: 23141293; Duran … (more)
The DHTKD1 c.2185G>A (p.Gly729Arg) variant has been reported in seven individuals affected with alpha-aminoadipic and alpha ketoadipic aciduria (Danhauser K et al., PMID: 23141293; Duran M et al., PMID: 6434826; Hagen J et al., PMID: 25860818; Stiles AR et al., PMID: 26141459). Of those individuals, four were compound heterozygous for the variant and a pathogenic or likely pathogenic variant and all confirmed in trans (Danhauser K et al., PMID: 23141293; Duran M et al., PMID: 6434826; Hagen J et al., PMID: 25860818). The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.3% in European non-Finnish population. Although in vitro analysis indicates that the p.Gly729Arg variant does not disrupt protein stability or thermostability (Bezerra GA et al., PMID: 32695416), functional studies in patient fibroblasts show elevated levels of 2-oxoadipate that was rescued with the expression of wildtype DHTKD1 (Danhauser K et al., PMID: 23141293). This variant also results in decreased catalytic efficiency for NADH production which impairs channeling of 2-oxoadipate dehydrogenase complex (OADHc) intermediates (Zhang X et al., PMID: 32303640); both studies indicate that this variant impacts protein function. Computational predictors are conflicting as to the impact of this variant on DHTKD1 function. This variant has been reported in the ClinVar database as a pathogenic variant by four submitters, likely pathogenic by eight submitters and a variant of uncertain significance by three submitters. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic. (less)
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Likely pathogenic
(Oct 26, 2022)
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criteria provided, single submitter
Method: clinical testing
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Not provided
Affected status: unknown
Allele origin:
germline
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713526.3
First in ClinVar: Jun 15, 2021 Last updated: Jan 26, 2024 |
Comment:
BP4, PM3, PS3, PS4_moderate
Number of individuals with the variant: 6
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Likely pathogenic
(Jun 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002024085.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Uncertain significance
(Aug 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603318.5
First in ClinVar: Sep 30, 2017 Last updated: Feb 20, 2024 |
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Uncertain significance
(Feb 01, 2024)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004126448.4
First in ClinVar: Nov 20, 2023 Last updated: Apr 15, 2024 |
Comment:
DHTKD1: PS3:Supporting, BS1:Supporting
Number of individuals with the variant: 2
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Uncertain Significance
(Nov 11, 2016)
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criteria provided, single submitter
Method: clinical testing
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Inborn disorder of lysine and hydroxylysine metabolism
(Autosomal recessive inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV004847983.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024 |
Comment:
The p.Gly729Arg variant in DHTKD1 has been reported in 3 compound heterozygous individuals with 2-aminoadipic & 2-oxoadipic aciduria, one occurrence noted to be de novo … (more)
The p.Gly729Arg variant in DHTKD1 has been reported in 3 compound heterozygous individuals with 2-aminoadipic & 2-oxoadipic aciduria, one occurrence noted to be de novo (Danhauser 2012, Lee 2014) and has also been identified in 0.23% (151/66498) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs117225135). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. In vitro functional studies provide some evidence that the p.Gly729Arg variant may impact protein function (Danhauser 2012). However, these types of assays may not accurately represent biological function. In addition, computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gly729Arg variant is uncertain. (less)
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Likely pathogenic
(Apr 27, 2019)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
unknown
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV000930308.1
First in ClinVar: Aug 05, 2019 Last updated: Aug 05, 2019 |
Geographic origin: Iran
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Uncertain significance
(May 04, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Mendelics
Accession: SCV002519094.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
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Uncertain significance
(Jan 19, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000617853.4
First in ClinVar: Dec 19, 2017 Last updated: Feb 07, 2023 |
Comment:
Observed in multiple patients in published literature with 2-aminoadipic and 2-oxoadipic aciduria and phenotypes suspected to be related; however, some of these patients harbored other … (more)
Observed in multiple patients in published literature with 2-aminoadipic and 2-oxoadipic aciduria and phenotypes suspected to be related; however, some of these patients harbored other potential explanations for their clinical phenotypes or harbored only one variant in DHTKD1 (Danhauser et al., 2012; Hagen et al., 2015; Stiles et al., 2016); Published functional studies suggest a damaging effect on the function of the 2-oxoadipate dehydrogenase complex (Zhang et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23141293, 26141459, 32303640, 25860818, 30842647, 34426522, 33946784, 35052424) (less)
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Pathogenic
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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2-aminoadipic 2-oxoadipic aciduria
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000644177.8
First in ClinVar: Dec 26, 2017 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 729 of the DHTKD1 protein (p.Gly729Arg). … (more)
This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 729 of the DHTKD1 protein (p.Gly729Arg). This variant is present in population databases (rs117225135, gnomAD 0.3%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with 2-aminoadipic 2-oxoadipic aciduria (PMID: 23141293, 25860818, 26141459; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 39564). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Jun 28, 2022)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003683539.3
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2185G>A (p.G729R) alteration is located in exon 13 (coding exon 13) of the DHTKD1 gene. This alteration results from a G to A substitution … (more)
The c.2185G>A (p.G729R) alteration is located in exon 13 (coding exon 13) of the DHTKD1 gene. This alteration results from a G to A substitution at nucleotide position 2185, causing the glycine (G) at amino acid position 729 to be replaced by an arginine (R). Based on data from gnomAD, the A allele has an overall frequency of 0.17% (465/279662) total alleles studied. The highest observed frequency was 0.27% (352/128094) of European (non-Finnish) alleles. This variant has been detected in the compound heterozygous state with other DHTKD1 variants in multiple unrelated individuals with alpha-aminoadipic and alpha-ketoadipic aciduria (Danhauser, 2012; Hagen, 2015; Stiles, 2016). This amino acid position is well conserved in available vertebrate species. Experimental studies showed this variant has a damaging effect on protein function (Danhauser, 2012; Zhang, 2020). This alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic. (less)
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Pathogenic
(Apr 25, 2018)
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no assertion criteria provided
Method: clinical testing
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2-aminoadipic 2-oxoadipic aciduria
Affected status: yes
Allele origin:
germline
|
Institute of Human Genetics, Cologne University
Accession: SCV000787771.1
First in ClinVar: Jul 21, 2018 Last updated: Jul 21, 2018 |
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Pathogenic
(Dec 07, 2012)
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no assertion criteria provided
Method: literature only
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ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000056528.4
First in ClinVar: Apr 04, 2013 Last updated: Apr 24, 2021 |
Comment on evidence:
In 2 patients with 2-aminoadipic 2-oxoadipic aciduria (AAKAD; 204750), Danhauser et al. (2012) identified a heterozygous G-to-A transition at nucleotide 2185 of the DHTKD1 gene … (more)
In 2 patients with 2-aminoadipic 2-oxoadipic aciduria (AAKAD; 204750), Danhauser et al. (2012) identified a heterozygous G-to-A transition at nucleotide 2185 of the DHTKD1 gene resulting in a gly-to-arg substitution at codon 729 (G729R). In 1 patient the G729R mutation was found in compound heterozygosity with a mutation involving the initiator methionine (614984.0001), and in the other patient a premature termination mutation was found (R410X; 614984.0003). In the first patient the G729R mutation occurred de novo and in the second it was maternally transmitted. Gly729 is evolutionarily conserved from Homo sapiens to C. elegans and D. melanogaster. This mutation (rs117225135) was found in the NHLBI Exome Variant Server with a minor allele frequency of 0.17%, corresponding to 19 heterozygous but no homozygous carriers among 5,379 individuals. (less)
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Likely pathogenic
(Nov 15, 2022)
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no assertion criteria provided
Method: clinical testing
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Tip-toe gait
Affected status: yes
Allele origin:
germline
|
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino
Accession: SCV004023199.1
First in ClinVar: Aug 05, 2023 Last updated: Aug 05, 2023 |
Clinical Features:
limited range of motion of upper ankle (present)
Method: Gene panel analysis
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Uncertain significance
(Jan 06, 2016)
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no assertion criteria provided
Method: literature only
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Charcot-Marie-Tooth disease type 2A2
Affected status: yes
Allele origin:
germline
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Inherited Neuropathy Consortium Ii, University Of Miami
Accession: SCV004174577.1
First in ClinVar: Dec 09, 2023 Last updated: Dec 09, 2023 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies. | Leandro J | Molecular genetics and metabolism | 2020 | PMID: 32768327 |
Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism. | Bezerra GA | IUCrJ | 2020 | PMID: 32695416 |
Structure-function analyses of the G729R 2-oxoadipate dehydrogenase genetic variant associated with a disorder of l-lysine metabolism. | Zhang X | The Journal of biological chemistry | 2020 | PMID: 32303640 |
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. | Karakaya M | Human mutation | 2018 | PMID: 29858556 |
Evidence for functional and regulatory cross-talk between the tricarboxylic acid cycle 2-oxoglutarate dehydrogenase complex and 2-oxoadipate dehydrogenase on the l-lysine, l-hydroxylysine and l-tryptophan degradation pathways from studies in vitro. | Nemeria NS | Biochimica et biophysica acta. Bioenergetics | 2018 | PMID: 29752936 |
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. | Stiles AR | JIMD reports | 2016 | PMID: 26141459 |
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. | Hagen J | Journal of inherited metabolic disease | 2015 | PMID: 25860818 |
Clinical exome sequencing for genetic identification of rare Mendelian disorders. | Lee H | JAMA | 2014 | PMID: 25326637 |
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. | Danhauser K | American journal of human genetics | 2012 | PMID: 23141293 |
Text-mined citations for rs117225135 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.