ASPDH

protein-coding

aspartate dehydrogenase domain containing

Gene summary

Predicted to enable L-aspartate dehydrogenase [NAD(P)+] activity and NADP binding activity. Predicted to be involved in NAD+ biosynthetic process. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001114598.2

Inheritance

—

ClinVar variants

U:57B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr19:50,511,600-50,514,690

External References & Databases

Ensembl (ENSG00000204653)

Transcript & Mutation Effects

hg38 • Region Span ~3.1 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ASPDH variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 58

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001114598.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			56 clinvar	2 clinvar		58
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	57	2	0	59

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 37 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001114598.2	RefSeq	NP_001108070.1	7	MANE Select
ENST00000389208.9	Ensembl	ENSP00000373860.3	7	MANE Select
NM_001024656.3	RefSeq	NP_001019827.2	5	Standard
ENST00000376916.7	Ensembl	ENSP00000366114.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Nicotinate and nicotinamide metabolism - Homo sapiens (human)

Biological Process

NADP catabolic process
NAD biosynthetic process
oxidation-reduction process

Molecular Function

aspartate dehydrogenase activity
NADP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000389208
Coding exons: 7
Length: 3091
Individuals with no LoFs: 125665
Homozygous LoFs: 0
Heterozygous LoFs: 17
Defined: 125682
p: 0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.452	143	159	0.899	0.0000103	1760
Missense (PolyPhen)		66	75.87	0.86991		812
Synonymous	0.388	65	69.1	0.941	0.00000481	624
Loss of Function	0.536	10	12.0	0.833	7.53e-7	125

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00016	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000090	0.000088	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Specifically catalyzes the NAD or NADP-dependent dehydrogenation of L-aspartate to iminoaspartate. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.867
RVIS EVS: 0.68
RVIS percentile EVS: 84.93

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00872

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium