AMBN
Basic information
Region (hg38): 4:70592255-70607288
Links
Phenotypes
GenCC
Source:
- amelogenesis imperfecta type 1F (Limited), mode of inheritance: Semidominant
- amelogenesis imperfecta type 1 (Supportive), mode of inheritance: AD
- amelogenesis imperfecta type 1F (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Amelogenesis imperfecta, type IF | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Dental | 24858907 |
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AMBN 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 | 7 | |||||
| missense | 22 | 31 | ||||
| nonsense | 3 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 1 | |||||
| splice donor/acceptor (+/-2bp) | 2 | |||||
| splice region | 1 | 1 | ||||
| non coding | 2 | |||||
| Total | 0 | 1 | 26 | 9 | 10 |
Variants in AMBN
This is a list of pathogenic ClinVar variants found in the AMBN region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AMBN | protein_coding | protein_coding | ENST00000322937 | 13 | 15033 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.05e-9 | 0.519 | 125652 | 0 | 92 | 125744 | 0.000366 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.348 | 260 | 245 | 1.06 | 0.0000119 | 2899 |
| Missense in Polyphen | 81 | 80.997 | 1 | 959 | ||
| Synonymous | -0.562 | 97 | 90.2 | 1.08 | 0.00000535 | 875 |
| Loss of Function | 1.16 | 17 | 23.0 | 0.740 | 9.75e-7 | 284 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000339 | 0.000333 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000226 | 0.000218 |
| Finnish | 0.00106 | 0.00106 |
| European (Non-Finnish) | 0.000467 | 0.000457 |
| Middle Eastern | 0.000226 | 0.000218 |
| South Asian | 0.000163 | 0.000163 |
| Other | 0.000175 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the mineralization and structural organization of enamel.;
- Pathway
- Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
(Consensus)
Recessive Scores
- pRec
- 0.0665
Intolerance Scores
- loftool
- 0.780
- rvis_EVS
- 1.55
- rvis_percentile_EVS
- 95.64
Haploinsufficiency Scores
- pHI
- 0.119
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.127
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | High | Medium | Medium |
| Primary Immunodeficiency | High | High | High |
| Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Ambn
- Phenotype
- skeleton phenotype; neoplasm; craniofacial phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- cell adhesion;cell population proliferation;regulation of signaling receptor activity;biomineral tissue development;odontogenesis of dentin-containing tooth;post-translational protein modification;cellular protein metabolic process
- Cellular component
- extracellular region;endoplasmic reticulum lumen
- Molecular function
- protein binding;growth factor activity;structural constituent of tooth enamel