Table 3.
Drosophila Notch (N) EGFr cysteine-altering alleles and wing phenotype.
| N Allele | Fly Mutation (EGFr) | Wing Phenotype | Residue Corresponding to Human NOTCH3 (EGFr) | CADASIL Mutations Reported at the Residue 1 |
|---|---|---|---|---|
| FlyBase [105] | ||||
| Nnd−3 | p.Cys105Phe (EGFr 2) | Notching | p.Cys87 (EGFr 2) | p.Cys87Arg [44]/Tyr [44]/Phe [107] |
| NMcd5 | p.Cys739Tyr (EGFr 18) | Wild-type | p.Cys681 (EGFr 17) | not reported |
| NAx−59b | p.Cys972Gly (EGFr 24) | Abruptex | p.Cys875 (EGFr 22) | not reported |
| NAx-M1 | p.Cys999Tyr (EGFr 25) | Abruptex | p.Cys901 (EGFr 23) | not reported |
| Yamamoto et al., 2012 [106] | ||||
| egf8-C2S | p.Cys343Ser (EGFr 8) | Notching | p.Cys285 (EGFr 7) | p.Cys285Arg [108] |
| egf8-C2Y | p.Cys343Tyr (EGFr 8) | Notching | p.Cys285 (EGFr 7) | p.Cys285Arg [108] |
| egf8-C6S | p.Cys369Ser (EGFr 8) | Notching | p.Cys311 (EGFr 7) | p.Cys311Ser [109,110]/Gly [111] |
| egf9-C5Y | p.Cys398Tyr (EGFr 9) | Notching | p.Cys340 (EGFr 8) | p.Cys340Phe [8]/Trp [112] |
| egf9-C6S | p.Cys407Ser (EGFr 9) | Notching | p.Cys349 (EGFr 8) | not reported |
| egf10-C2S | p.Cys413Ser (EGFr 10) | Notching | p.Cys355 (EGFr 9) | p.Cys355Ser 2 [113] |
| egf11-C1S | p.Cys453Ser (EGFr 11) | Notching | p.Cys395 (EGFr 10) | p.Cys395Arg [44] |
| egf13-C2S | p.Cys535Ser (EGFr 13) | Wild-type | p.Cys478 (EGFr 12) | p.Cys478Tyr [114] |
| egf25-C2S | p.Cys993Ser (EGFr 25) | Notching | p.Cys896 (EGFr 23) | not reported |
| egf29-C2S | p.Cys1155Ser (EGFr 29) | Abruptex | p.Cys1055 (EGFr 27) | not reported |
| egf34-C1Y | p.Cys1341Tyr (EGFr 34) | Wild-type | p.Cys1250 (EGFr 32) | p.Cys1250Trp [115]/Gly 2 [113] |
1 CADASIL mutations were identified using HGMD Professional (2023.3) [54]. 2 p.Cys355Ser and p.Cys1250Gly are described by genome position (GRCh38) 19:15189401_C/G and 19:15178912_A/C, respectively.