Table 2.
ERBB4 missense mutations that are found in human tumor samples, yet whose function is largely unknown.
| Mutation | ERBB4 Functional Region | Tumor Type | Reference(s) |
|---|---|---|---|
| A4E | Signal sequence | Gastric | (Chen et al., 2015) |
| L39F | Unknown | Gastric | (Chen et al., 2015) |
| L39F | Unknown | Melanoma | (Prickett et al., 2009) |
| Y46C | Unknown | Gastric | (Chen et al., 2015) |
| R50C | Unknown | Gastric | (Chen et al., 2015) |
| L97P | ECD I | Gastric | (Chen et al., 2015) |
| R106C | ECD I | Gastric | (Chen et al., 2015) |
| R106H | ECD I | Gastric | (Chen et al., 2015) |
| R106S | ECD I | Thyroid | (Gerber et al., 2018) |
| Y111H | ECD I | Melanoma | (Prickett et al., 2009) |
| D113V | ECD I | Thyroid | (Gerber et al., 2018) |
| D165N | ECD I | Thyroid | (Gerber et al., 2018) |
| I166N | ECD I | Thyroid | (Gerber et al., 2018) |
| P172S | Unknown | Gastric | (Chen et al., 2015) |
| N181S | Unknown | Lung | (Kurppa et al., 2016) |
| R196C | ECD II | Gastric | (Chen et al., 2015) |
| C213Y | ECD II | Thyroid | (Gerber et al., 2018) |
| C217R | ECD II | Gastric | (Chen et al., 2015) |
| G219D | ECD II | Thyroid | (Gerber et al., 2018) |
| V226I | ECD II | Gastric | (Chen et al., 2015) |
| E233G | ECD II | Thyroid | (Gerber et al., 2018) |
| G240R | ECD II | Gastric | (Chen et al., 2015) |
| T244R | ECD II | Lung | (Kurppa et al., 2016) |
| R306S | ECD II | Lung | (Kurppa et al., 2016) |
| M313I | ECD II | Melanoma | (Prickett et al., 2009) |
| S341L | Unknown | Melanoma | (Prickett et al., 2009) |
| I353V | Unknown | Gastric | (Chen et al., 2015) |
| V348L | Unknown | Lung | (Kurppa et al., 2016) |
| N358K | ECD III | Gastric | (Chen et al., 2015) |
| E387D | ECD III | Gastric | (Chen et al., 2015) |
| R393W | ECD III | Gastric | (Chen et al., 2015) |
| R393W | ECD III | Melanoma | (Prickett et al., 2009) |
| F401S | ECD III | Gastric | (Chen et al., 2015) |
| P409L | ECD III | Melanoma | (Prickett et al., 2009) |
| S449Y | ECD III | Gastric | (Chen et al., 2015) |
| L466M | ECD III | Gastric | (Chen et al., 2015) |
| F478V | ECD III | Gastric | (Chen et al., 2015) |
| R488W | Unknown | Gastric | (Chen et al., 2015) |
| R491K | Unknown | Melanoma | (Prickett et al., 2009) |
| E494G | Unknown | Gastric | (Chen et al., 2015) |
| S522L | ECD IV | Gastric | (Chen et al., 2015) |
| N548T | ECD IV | Gastric | (Qu et al., 2013; Zang et al., 2012) |
| C589Y | ECD IV | Thyroid | (Gerber et al., 2018) |
| D609N | ECD IV | Melanoma | (Prickett et al., 2009) |
| C614Y | ECD IV | Thyroid | (Gerber et al., 2018) |
| H618P | ECD IV | Lung | (Kurppa et al., 2016) |
| N626T | ECD IV | Gastric | (Chen et al., 2015) |
| P700S | Unknown | Melanoma | (Prickett et al., 2009) |
| L710R | Unknown | Gastric | (Chen et al., 2015) |
| V721I | Tyrosine kinase | Colorectal | (Soung et al., 2006; Tvorogov et al., 2009) |
| V744L | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| A773S | Tyrosine kinase | Gastric | (Soung et al., 2006; Tvorogov et al., 2009) |
| S774G | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| S774N | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| R782Q | Tyrosine kinase/LXXLL motif | Lung | (Soung et al., 2006; Tvorogov et al., 2009) |
| L798P | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| L798R | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| E810K | Tyrosine kinase | Lung | (Soung et al., 2006; Tvorogov et al., 2009) |
| L821I | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| Y833C | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| V840I | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| P854Q | Tyrosine kinase | Colorectal | (Soung et al., 2006; Tvorogov et al., 2009) |
| T898S | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| I910V | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| K919N | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| T926M | Tyrosine kinase | Lung | (Soung et al., 2006; Tvorogov et al., 2009) |
| R927Q | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| G936R | Tyrosine kinase | Melanoma | (Prickett et al., 2009) |
| P942S | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| R979Q | Tyrosine kinase | Gastric | (Chen et al., 2015) |
| K1002R | Unknown | Gastric | (Chen et al., 2015) |
| I1030M | Unknown | Colorectal | (Parsons et al., 2005; Tvorogov et al., 2009) |
| P1033S | WW domain binding motif? | Melanoma | (Prickett et al., 2009) |
| Q1063K | Unknown | Gastric | (Chen et al., 2015) |
| A1078T | Unknown | Gastric | (Chen et al., 2015) |
| F1102C | Unknown | Gastric | (Chen et al., 2015) |
| H1118R | Unknown | Gastric | (Chen et al., 2015) |
| P1132S | Unknown | Gastric | (Chen et al., 2015) |
| R1174Q | Unknown | Melanoma | (Prickett et al., 2009) |
| P1149T | Unknown | Gastric | (Chen et al., 2015) |
| Y1150C | Phosphorylation site? | Gastric | (Chen et al., 2015) |
| K1160Q | Unknown | Gastric | (Chen et al., 2015) |
| L1163P | Unknown | Gastric | (Chen et al., 2015) |
| E1220A | Unknown | Gastric | (Chen et al., 2015) |
| K1223M | Unknown | Gastric | (Chen et al., 2015) |
| K1223T | Unknown | Gastric | (Chen et al., 2015) |
| S1246N | Unknown | Melanoma | (Prickett et al., 2009) |
| R1257W | Unknown | Gastric | (Chen et al., 2015) |
| I1274F | Unknown | Gastric | (Chen et al., 2015) |