Corneal dystrophy, Meesmann, 2: genes and variants
Corneal dystrophy, Meesmann, 2 is linked to 2 analyzed proteins (KRT3 and KRT12). 11 DNA variants are known to cause it; 6 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: Corneal dystrophy, Meesmann, 1
Genes linked to Corneal dystrophy, Meesmann, 2
KRT3: Keratin, type II cytoskeletal 3
It pairs with keratin 12 to build the corneal epithelial intermediate-filament network and maintain corneal surface integrity. Dominant pathogenic variants cause Meesmann corneal dystrophy with epithelial microcysts and recurrent irritation.
4 disease-causing and 3 uncertain variants in KRT3 are linked to Corneal dystrophy, Meesmann, 2.
KRT12: Keratin, type I cytoskeletal 12
It pairs with keratin 3 to form the characteristic intermediate-filament network of corneal epithelial cells. Dominant pathogenic variants cause Meesmann corneal dystrophy, with epithelial microcysts, irritation, and variable visual symptoms.
7 disease-causing and 3 uncertain variants in KRT12 are linked to Corneal dystrophy, Meesmann, 2.
Where Corneal dystrophy, Meesmann, 2 variants cluster
- KRT12 Coil 1A (positions 125–160): 6 of 7 disease-causing changes, 11.8× more than its size predicts.
Known disease-causing variants in Corneal dystrophy, Meesmann, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| KRT3 E498K | 498 | IF rod | Disease-causing (★) |
| KRT3 E509D | 509 | IF rod | Disease-causing (★) |
| KRT12 R135G | 135 | IF rod | Disease-causing |
| KRT12 R135I | 135 | IF rod | Disease-causing |
| KRT12 R135T | 135 | IF rod | Disease-causing |
| KRT3 E498V | 498 | IF rod | Disease-causing |
| KRT12 L132P | 132 | IF rod | Disease-causing |
| KRT12 V143L | 143 | IF rod | Disease-causing |
| KRT3 R503P | 503 | IF rod | Disease-causing |
| KRT12 L140R | 140 | IF rod | Disease-causing |
| KRT12 Y429D | 429 | IF rod | Disease-causing |
Which prediction tools work for Corneal dystrophy, Meesmann, 2
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 95 out of 100 (learned from overlapping clinical labels, so this is optimistic)
Frequently asked questions
Which genes are linked to Corneal dystrophy, Meesmann, 2?
In CATVariant, Corneal dystrophy, Meesmann, 2 is linked to 2 analyzed proteins: KRT3 (Keratin, type II cytoskeletal 3) and KRT12 (Keratin, type I cytoskeletal 12).
How many genetic variants are linked to Corneal dystrophy, Meesmann, 2?
19 variants: 11 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 6 are of uncertain significance or have conflicting reports.
Which uncertain variants in Corneal dystrophy, Meesmann, 2 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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