AFMID
protein-codingarylformamidase
Gene summary
Predicted to enable arylformamidase activity. Predicted to be involved in obsolete L-tryptophan catabolic process to L-kynurenine. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~20.3 kbGenCC 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 AFMID variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001010982.5. 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 | 2 | 2 | ||||
| missense | 44 | 6 | 50 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 8 | 8 | ||||
| Total | 0 | 0 | 52 | 8 | 0 | 60 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001010982.2 | 11 | MANE Select | |
| Ensembl | ENSP00000386890.4 | 11 | MANE Select | |
| RefSeq | NP_001138998.1 | 11 | Standard | |
| RefSeq | NP_001378928.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Tryptophan metabolism - Homo sapiens (human)
- Glyoxylate and dicarboxylate metabolism - Homo sapiens (human)
- Tryptophan Metabolism
- NAD Biosynthesis II (from tryptophan)
- Tryptophan metabolism
Biological Process
- tryptophan catabolic process to kynurenine
- 'de novo' NAD biosynthetic process from tryptophan
Molecular Function
- arylformamidase activity
Cellular Component
- nucleus
- cytoplasm
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000327898
- Coding exons
- 11
- Length
- 20385
- Individuals with no LoFs
- 125295
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 451
- Defined
- 125748
- p
- 0.00180
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.124 | 181 | 186 | 0.974 | 0.0000108 | 1995 |
| Missense (PolyPhen) | 59 | 60.208 | 0.97994 | 648 | ||
| Synonymous | 0.224 | 77 | 79.5 | 0.968 | 0.00000565 | 589 |
| Loss of Function | 1.20 | 16 | 22.1 | 0.724 | 0.00000120 | 222 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00092 | 0.00092 | rare |
| Latino/Admixed American | 0.0015 | 0.0015 | notable |
| Ashkenazi Jewish | 0.00020 | 0.00020 | rare |
| East Asian | 0.00033 | 0.00033 | rare |
| Finnish | 0.00028 | 0.00028 | rare |
| European (Non-Finnish) | 0.0031 | 0.0031 | notable |
| South Asian | 0.00043 | 0.00042 | rare |
| Other | 0.0015 | 0.0015 | notable |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Catalyzes the hydrolysis of N-formyl-L-kynurenine to L- kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites. {ECO:0000255|HAMAP-Rule:MF_03014}.;
Recessive Scores
- pRec
- 0.218
Intolerance Scores
- LoFtool
- 0.378
- RVIS EVS
- 0.62
- RVIS percentile EVS
- 83.36
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.902
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |