AADAT

aminoadipate aminotransferase

Basic information

Region (hg38): 4:170060221-170091699

Links

ENSG00000109576

∙ NCBI:51166 ∙ OMIM:611754 ∙ HGNC:17929 ∙ Uniprot:Q8N5Z0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AADAT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AADAT gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6 clinvar			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in AADAT

This is a list of pathogenic ClinVar variants found in the AADAT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
4-170060960-C-A	not specified	Uncertain significance (Apr 08, 2024)	3331138
4-170064788-A-T	not specified	Uncertain significance (Feb 09, 2023)	2482588
4-170066477-C-G	not specified	Uncertain significance (Feb 05, 2024)	3131465
4-170073156-G-A	not specified	Uncertain significance (Aug 16, 2021)	2245704
4-170078510-C-G	not specified	Uncertain significance (Mar 31, 2024)	3330221
4-170078572-C-A	not specified	Uncertain significance (Nov 27, 2023)	3131376
4-170088433-T-A	not specified	Uncertain significance (Jul 14, 2023)	2611992
4-170089626-A-T	not specified	Uncertain significance (Dec 21, 2022)	2338498

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AADAT	protein_coding	protein_coding	ENST00000337664	13	31478

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.146	0.853	125725	0	13	125738	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.35	126	225	0.560	0.0000106	2800
Missense in Polyphen		28	80.834	0.34639		1010
Synonymous	0.578	69	75.4	0.915	0.00000382	770
Loss of Function	3.32	6	23.3	0.258	9.84e-7	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000894	0.0000894
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000549	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000712	0.0000703
Middle Eastern	0.0000549	0.0000544
South Asian	0.0000415	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Transaminase with broad substrate specificity. Has transaminase activity towards aminoadipate, kynurenine, methionine and glutamate. Shows activity also towards tryptophan, aspartate and hydroxykynurenine. Accepts a variety of oxo-acids as amino- group acceptors, with a preference for 2-oxoglutarate, 2- oxocaproic acid, phenylpyruvate and alpha-oxo-gamma-methiol butyric acid. Can also use glyoxylate as amino-group acceptor (in vitro). {ECO:0000269|PubMed:18620547}.;
Pathway: Tryptophan metabolism - Homo sapiens (human);Lysine degradation - Homo sapiens (human);Lysine Degradation;Hyperlysinemia I, Familial;2-aminoadipic 2-oxoadipic aciduria;Pyridoxine dependency with seizures;Saccharopinuria/Hyperlysinemia II;Tryptophan Metabolism;Glutaric Aciduria Type I;Hyperlysinemia II or Saccharopinuria;Tryptophan metabolism;Lysine catabolism;Tryptophan catabolism;Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism;Metabolism of amino acids and derivatives;Metabolism;Lysine degradation;L-kynurenine degradation;Lysine metabolism;Tryptophan metabolism;Butanoate metabolism;lysine degradation II (pipecolate pathway);lysine degradation I (saccharopine pathway) (Consensus)

Recessive Scores

pRec: 0.128

Intolerance Scores

loftool: 0.326
rvis_EVS: -0.12
rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

pHI: 0.0726
hipred: Y
hipred_score: 0.625
ghis: 0.477

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Aadat
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype;

Gene ontology

Biological process: 2-oxoglutarate metabolic process;glutamate metabolic process;lysine catabolic process;tryptophan catabolic process;biosynthetic process;L-lysine catabolic process to acetyl-CoA via saccharopine;kynurenine metabolic process;L-kynurenine metabolic process;alpha-amino acid metabolic process
Cellular component: mitochondrial matrix
Molecular function: transaminase activity;kynurenine-oxoglutarate transaminase activity;pyridoxal phosphate binding;protein homodimerization activity;2-aminoadipate transaminase activity