RGD:28871293 Rat Genome Database

Variant: RGD:28871293 - Homo sapiens

RGD ID:

28871293

RS ID:

rs2031981415

ClinVar ID:

CV897236

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DLD

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	107,545,887
GRCh38	7	107,905,442

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001289750.1:c.223A>G NP_000099.2:p.Ile174Val NP_001276679.1:p.Ile75Val NM_001289751.1:c.451A>G More...	01/13/2018	intron variant	uncertain significance	Ataxia with lactic acidosis 1; Dihydrolipoamide Dehydrogenase (E3) Deficiency; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Dihydrolipoamide Dehydrogenase E3 Deficiency; DLD DEFICIENCY; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Lipoamide dehydrogenase deficiency; Lipoamide dehydrogenase deficiency, lactic acidosis due to; Maple syrup urine disease, type 3; MAPLE SYRUP URINE DISEASE, TYPE III; Necrotizing encephalopathy infantile subacute of Leigh; PDH DEFICIENCY; Pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate dehydrogenase deficiency; Subacute necrotizing encephalopathy

Disease Annotations Click to see Annotation Detail View

Congenital Infantile Lactic Acidosis due to LAD Deficiency (IAGP)

Leigh disease (IAGP)

pyruvate decarboxylase deficiency (IAGP)

Subacute Necrotizing Encephalopathy of Leigh, Infantile (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Decreased activity of the pyruvate dehydrogenase complex (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DLD
Accession:	NM_001289750
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	75

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVVDTKNI LIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISK NFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPV NTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVG KFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANL AASFGKSINF*

Gene Symbol:	DLD
Accession:	NM_000108
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKN QVTATKADGGTQVVDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTK NLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVA WVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI ARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:	DLD
Accession:	NM_001289751
Location:	EXON
Amino Acid Prediction:	I to V (nonsynonymous)
Amino Acid Position:	151

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRTYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKALLNNSHYYHMAHG KDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVVDTKNILIAT GSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQR ILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRF QTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPF AANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASF GKSINF*

Gene Symbol:	DLD
Accession:	NM_001289752
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001158971	CLINVAR
	RCV001163902	CLINVAR
	RCV001163903	CLINVAR
dbSNP (RS)	rs2031981415	CLINVAR
MedGen	C0023264	CLINVAR
	C0034345	CLINVAR
	C5574660	CLINVAR
NCBI Gene	DLD	CLINVAR
OMIM	238331	CLINVAR
	246900	CLINVAR
	256000	CLINVAR
	312170	CLINVAR
SNOMED CT	29570005	CLINVAR
	46683007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:28871293 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:28871293 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar