Table 2 of
Xiao, Mol Vis 2019; 25:821-833. Table 2 of
Xiao, Mol Vis 2019; 25:821-833.
Table 2. Mutations in SPATA7 identified in this study and previous literatures.
| Position at chr14 | Nuleotide change NM_018418 | Alleles in probands | Effect | Type | CADD score | REVEL score | BDGP | HSF | Frequency in ExAC | HGMD | Our cohort | First reported |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 88828457 | c.1-23706_372+8679delinsTGG | 2 | / | Gross deletion | / | / | / | / | DM | / | [12] | |
| 88852165 | c.3G>A | 1 | p.? | Initiation | 24.7 | 0.277 | / | / | 1/79940 | DM | / | [6] |
| 88852180 | c.18A>G | 2 | p. = | Splicing | / | / | LDS | BDS | / | DM | / | [27] |
| 88852181 | c.19G>A | 2 | p.V7I | Missense+Splicing | / | / | LDS | BDS | / | DM | / | [23] |
| 88857725 | c.20_23delTCAG | 5 | p.V7Efs*19 | Frameshift | / | / | / | / | / | DM | Yes | [32] |
| 88859831 | c.189delA | 1 | p.A64Lfs*3 | Frameshift | / | / | / | / | / | DM | / | [31] |
| 88883061 | c.245dupA | 1 | p.D82Efs*16 | Frameshift | / | / | / | / | / | DM | / | [31] |
| 88883069 | c.253C>T | 13 | p.R85* | Nonsense | 37 | / | / | / | 2/120686 | DM | / | [3] |
| 88883081 | c.265_268delCTCA | 1 | p.L89Kfs*4 | Frameshift | / | / | / | / | / | DM | / | [3] |
| 88883104 | c.288T>A | 12 | p.C96* | Nonsense | 29 | / | / | / | 2/120690 | DM | / | [15] |
| 88883112 | c.296_297delAG | 2 | p.E99Vfs*5 | Frameshift | / | / | / | / | / | DM | / | [22] |
| 88883138 | c.322C>T | 11 | p.R108* | Nonsense | 35 | / | / | / | 4/119988 | DM | Yes | [1] |
| 88883156 | c.341delA†1 | 1 | p.N114Ifs*23 | Frameshift | / | / | / | / | / | DM | / | [13] |
| 88883183 | c.367C>T | 3 | p.Q123* | Nonsense | 35 | / | / | / | / | / | Yes | Novel |
| 88892575 | c.373-1G>A†2 | 1 | / | Splicing | / | / | LAS | BAS | / | DM | / | [13] |
| 88892690 | c.487A>T | 1 | p.K163* | Nonsense | 35 | / | / | / | / | DM | / | [11] |
| 88892843 | c.640delC†3 | 2 | p.Q214Sfs*2 | Frameshift | / | / | / | / | / | DM | / | [7] |
| 88892847 | c.644_647delTAGT | 2 | p.L215Sfs*30 | Frameshift | / | / | / | / | / | / | Yes | [20] |
| 88892903 | c.700dupT | 1 | p.S234Ffs*2 | Frameshift | / | / | / | / | / | DM | / | [29] |
| 88892911 | c.708_711delACAA | 1 | p.K236Nfs*9 | Frameshift | / | / | / | / | / | DM | / | [29] |
| 88892966 | c.763C>T | 3 | p.Q255* | Nonsense | 39 | / | / | / | / | DM | / | [2] |
| 88893049 | c.845+1G>A | 3 | / | Splicing | / | / | LDS | BDS | 1/112364 | DM | / | [2] |
| 88895690 | c.913-2A>G | 4 | / | Splicing | / | / | LAS | BAS | / | DM | / | [14] |
| 88895739 | c.960dupA†4 | 4 | p.P321Tfs*6 | Frameshift | / | / | / | / | / | DM | / | [1] |
| 88897545 | c.1058dupC | 1 | p.S354Ffs*4 | Frameshift | / | / | / | / | / | DM | / | [19] |
| 88899477 | c.1083-2A>G | 1 | / | Splicing | / | / | LAS | BAS | / | / | Yes | Novel |
| 88899496 | c.1100A>G | 1 | p.Y367C | Missense | 26.9 | 0.522 | / | / | 2/120094 | DM | / | [30] |
| 88899498 | c.1102_1103delCT | 2 | p.L368Efs*4 | Frameshift | / | / | / | / | / | DM | / | [11] |
| 88899508 | c.1112T>C | 2 | p.I371T | Missense | 25.5 | 0.234 | / | / | 39/120050 | DM? | Yes | [24] |
| 88903886 | c.1161-1G>C | 1 | / | Splicing | / | / | LAS | BAS | 1/120856 | DM | / | [2] |
| 88903897 | c.1171C>T | 3 | p.R391* | Nonsense | 44 | / | / | / | / | DM | / | [23] |
| 88903909 | c.1183C>T | 13 | p.R395* | Nonsense | 36 | / | / | / | 4/120876 | DM | Yes | [1] |
| 88903937 | c.1211A>G | 1 | p.E404G | Missense | 29.8 | 0.157 | / | / | / | DM | / | [26] |
| 88903941 | c.1215G>T | 2 | p.E405D | Missense | 24.4 | 0.113 | / | / | 1/120540 | DM | / | [13] |
| 88903946 | c.1215+5G>A | 2 | / | Splicing | / | / | none | BDS | / | DM | / | [27] |
| 88904180 | c.1216-2A>T | 2 | / | Splicing | / | / | LAS | BAS | / | DM | / | [13] |
| 88904181 | c.1216-1G>A | 2 | / | Splicing | / | / | LAS | BAS | / | DM | / | [8] |
| 88904195 | c.1229_1231delACC†5 | 1 | p.H410del | Inframe deletion | / | / | / | / | / | DM | / | [3] |
| 88904207 | c.1241_1252del12 | 1 | p.V414_V417del | Inframe deletion | / | / | / | / | / | DM? | / | [19] |
| 88904339 | c.1373delT | 4 | p.V458Efs*48 | Frameshift | / | / | / | / | / | DM | / | [8] |
| 88904361 | c.1395delA†6 | 2 | p.Q465Hfs*41 | Frameshift | / | / | / | / | / | DM | / | [1] |