Table 4.
hZP1–4 Mutations in Infertile Human Patients.
| hZP1 Mutations | Location of Mutation | Status of Zona Pellucida | References |
|---|---|---|---|
| G57Dfs*9 | exon-1, SC in NI befroe TD | none | [136] |
| R61C | exon-1, NI befroe TD | none (?) | [137] |
| W83R | exon-2, NI befroe TD | abnormal/none | [138] |
| E67>X | exon-2, SC in NI befroe TD | none | [139] |
| RI09H | exon-3, NI befroe TD | none | [140] |
| H701fs*52 | exon-3, SC between NI and TD | none | [141] |
| Q292>X | exon-5, SC in ZP | none | [142] |
| I386>X | exon-7, SC between ZP-N and ZP-C(linker) | none | [142] |
| I390fs404X | exon-7, SC between ZP-N and ZP-C(linker) | none | [143,144] |
| I390Tfs*16 | exon-7, SC between ZP-N and ZP-C(linker) | none | [136,137] |
| R410W | exon-7, between ZP-N and ZP-C(linker) | none | [141] |
| W471>X | exon-8, SC in ZP-C | abnormal/none | [138] |
| C478>X | exon-9, SC in ZP-C | none | [141] |
| V570M | exon-11, between CFCS and EHP | none | [141] |
| D592Gfs*29 | exon-12, SC between CFCS and TMD | none | [141] |
| hZP2 Mutations | |||
| C372S | exon-11, ZP-N | thin/none | [141] |
| Q412Rfs*17 | exon-11, ZP-N | thin | [145] |
| R533S | exon-15, ZP-C | normal/none | [138] |
| C566R | exon-16, ZP-C | abnormal/none | [138] |
| R698>X | exon-19, SC between CFCS and TMD | very thin/none | [146] |
| hZP3 Mutations | |||
| A134T | exon-2, ZP-N | none | [140,147] |
| S173C | exon-3, ZP-C | none | [148] |
| R255G | exon-5, ZP-C | none | [141] |
| R349L>X | exon-8, SC at CFCS | very thin/none | [146] |
| hZP4 Mutations | |||
| D100N | exon-3, NI | thin, irregular | [149] |
| V444L | exon-10, ZP-C | thin, irregular | [149] |
Abbreviations: CFCS, concensus furin cleavage-site; EHP, external hydrophobic patch; h, human.