MUTYH
Gene name: mutY homolog (E. coli)OMIM ID: 604933
Chromosome location: 1p34.1
Mutations
| Disease/Phenotype | Adenomas, multiple colorectal |
|---|---|
| Reference transcript | NM_001048171.1 |
| DNA Change | c.1105delC |
| A.A. Change | p.Ala371ProfsX23 |
| Exon/Intron | exon 12 |
| Mutation Type | deletion |
| Reference | Laarabi FZ, Cherkaoui Jaouad I, Baert-Desurmont S, Ouldim K, Ibrahimi A, Kanouni N, Frebourg T, Sefiani A.The first mutations in the MYH gene reported in Moroccan colon cancer patients. Gene. 2012 Mar 15;496(1):55-8. |
| Disease/Phenotype | Adenomas, multiple colorectal |
|---|---|
| Reference transcript | NM_001048171.1 |
| DNA Change | c.1145G>A |
| A.A. Change | p.Gly382Asp |
| Exon/Intron | exon 13 |
| Mutation Type | substitution |
| Reference | Laarabi FZ, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani A.Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. Ann Hum Biol. 2011 May;38(3):360-3. |
| Disease/Phenotype | Adenomas, multiple colorectal |
|---|---|
| Reference transcript | NM_001048171.1 |
| DNA Change | c.1186_1187insGG |
| A.A. Change | p.Glu396fsX42 |
| Exon/Intron | exon 13 |
| Mutation Type | deletion |
| Reference | Laarabi FZ, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani A.Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. Ann Hum Biol. 2011 May;38(3):360-3. |
| Disease/Phenotype | Adenomas, multiple colorectal |
|---|---|
| Reference transcript | NM_001048171.1 |
| DNA Change | c.494A>G |
| A.A. Change | p.Tyr165Cys |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Laarabi FZ, Cherkaoui Jaouad I, Benazzouz A, Squalli D, Sefiani A.Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. Ann Hum Biol. 2011 May;38(3):360-3. |