Gene
MUTYH
mutY DNA glycosylase
- HGNC 7527(opens in a new tab)
- Ensembl gene ENSG00000132781(opens in a new tab)
- NCBI Gene 4595(opens in a new tab)
Summary
- Cytogenetic location
- 1p34.1
- Coordinates
- Chromosome 1: 45,329,242–45,339,970 (GRCh38)
- Exons
- 16 exons across 10.7 kb
- Protein
- 521 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- MYH
- MANE Select transcript
- ENST00000456914.7NM_001048174.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Colorectal Cancer & Polyposis
- Familial adenomatous polyposis (classic or attenuated)Autosomal dominant
Hundreds to thousands of colorectal adenomas with a near-certain risk of colorectal cancer without treatment; includes APC-related FAP and MUTYH-, NTHL1- and MSH3-related polyposis.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How MUTYH is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.7 kb of the gene's 10.7 kb; 1,566 of those bases code for the protein.
How a genome test reads MUTYH
398
positions in MUTYH where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.7 kb of MUTYH, introns included, not only the 1.7 kb of exons.
Variants with a page (131)
The MUTYH variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A17Pfs*46 | c.49del | Exon 2 | 45,334,456 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A259Pfs*32 | c.775del | Exon 10 | 45,332,239 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| A357Pfs*23 | c.1063del | Exon 12 | 45,331,699 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.-6-2A>G | Intron 1 | 45,334,513 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.115+1G>A | Intron 2 | 45,334,390 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.115+2T>G | Intron 2 | 45,334,389 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.224G>A | Exon 3 | 45,333,453 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.228C>G | Exon 3 | 45,333,449 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.264+1G>T | Intron 3 | 45,333,412 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| c.304+2T>C | Intron 4 | 45,333,283 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to MUTYH
The Human Phenotype Ontology lists these as features of the rare conditions MUTYH can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Glioblastoma multiforme
- Anxiety
- Attention deficit
- Behavioral abnormality
- Depression
- Epilepsy
- Irritability
- Migraine
Show 15 more traits
- Rise in pressure inside skull
- Abnormal gait
- Abnormal pyramidal sign
- Abnormal speech pattern
- Benign neoplasm of the central nervous system
- Cancer of early nerve cells
- Difficulty articulating speech
- Disorder of involuntary muscle movements
- Disturbed sensory perception
- Dysgraphia
- Hallucinations
- Loss of developmental milestones
- Memory impairment
- Paralysis or weakness of one side of body
- Pins and needles feeling
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MUTYH gene: mutY DNA glycosylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mutyh
Dante Labs. MUTYH gene: mutY DNA glycosylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mutyh
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