Table 1.
Overview of Nomenclature for MUTYH Germline Mutations
| Nomenclature from Reference Sequence NM_ 001048171 | Nomenclature from Reference Sequence NM_012222.2 (Extended at the 5’ end of exon 3)* |
|---|---|
| p.V22M | p.V22M |
| p.Y90X | p.Y104X |
| p.Y114H | p.Y128H |
| p. Y165C | p.Y179C |
| p.R168H | p.R182H |
| p.R168C | p.R182C |
| p.R171Q | p.R185Q |
| p.G175E | p.G189E |
| p.R227W | p.R241W |
| p.R231C | p.R245C |
| p.V232F | p.V246F |
| p.Q324H | p.Q338H |
| p.E369fsX437 | p.E383fsX451 |
| p. G382D | p. G396D |
| p.P391L | p.P405L |
| p.A459D | p.A473D |
| p.E466X | p.E480X |
| p.S501F | p.S515F |
| c.934-2A>G | c.976-2A>G |
| c.1391delAGG | c.1433delAGG |
| c.1103delGGA | c.1145delGGA |
| c.1395delGGA | c.1437delGGA |
| c.1103delC | c.1145delC |
| c.1186_1187insGG | c.1228_1229dupGG |
| c.IVS10-2A>G | c.IVS10-2A>G |
*
The new nomenclature for MUTYH mutations is based on referral to the longest existing MUTYH transcript and were found at http://www.LOVD.nl/MUTYH