TYR
Chr 11ADARtyrosinase
Also known as: ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3
The protein is a copper-containing oxidase that catalyzes the rate-limiting conversion of tyrosine to DOPA and subsequent oxidation steps in melanin biosynthesis. Mutations cause oculocutaneous albinism types IA and IB through autosomal recessive inheritance, with complete loss of enzyme function in type IA and reduced function in type IB. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern where heterozygous carriers have normal pigmentation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 10 | 7 | 5 | 0 | 22 |
Likely Pathogenic | 12 | 26 | 2 | 0 | 40 |
VUS | 0 | 75 | 1 | 2 | 78 |
Likely Benign | 0 | 0 | 16 | 40 | 56 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 4 | |||
| Total | 22 | 108 | 24 | 42 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TYR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Study to Evaluate the Safety and Efficacy of Bicalutamide in Combination With Sunitinib in Patients With TKIs-resistant RCC
RECRUITINGA Study of Osimertinib With or Without Chemotherapy as 1st Line Treatment in Patients With Mutated Epidermal Growth Factor Receptor Non-Small Cell Lung Cancer (FLAURA2)
ACTIVE NOT RECRUITINGA Study to Learn More About How Well Treatment With Sevabertinib (BAY 2927088) Tablets Works and How Safe it is in Participants Who Have a Solid Tumor With Mutations of the Human Epidermal Growth Factor Receptor 2 (HER2)
RECRUITINGDevelopment of Patient Derived Xenografts (PDXs) and Analysis of Tyrosine Kinase Receptor Expression in Patients With Squamous Cell Head and Neck Cancer (HNSCC) to Study Resistance Mechanisms Induced by Standard Therapy
NOT YET RECRUITINGEarly Rebiopsy to Identify Biomarkers of Tumor Cell Survival Following EGFR, ALK, ROS1 or BRAF TKI Therapy
RECRUITINGBlinatumomab and Tyrosine Kinase Inhibitor Therapy in People With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia
ACTIVE NOT RECRUITINGFiber and Metformin Combination Therapy in Adolescents With Severe Obesity and Insulin Resistance
RECRUITINGAsciminib as Initial Therapy for Patients With Chronic Myeloid Leukemia in Chronic Phase
RECRUITINGRevumenib in Combination With 7+3 + Midostaurin in AML
RECRUITINGEfficacy and Safety Comparison of Niraparib to Placebo in Participants With Human Epidermal Growth Factor 2 Negative (HER2-) Breast Cancer Susceptibility Gene Mutation (BRCAmut) or Triple-Negative Breast Cancer (TNBC) With Molecular Disease
ACTIVE NOT RECRUITINGLidocaine Infusion in Pancreatic Cancer
RECRUITINGNor)Clozapine Kinetics and Side Effects in Therapy Resistant Schizophrenia and the Optimal Sampling Time for Therapeutic Drug Monitoring
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools