Table 2 Summary of CRB1 variants causing LCA8
Exon | Variant type | DNA change | Amino acid change | Region | References |
|---|---|---|---|---|---|
Ex1 | Substitution | c.2T>C | p.M1T | Japanese | Hosono et al. [14] |
Ex1 | Substitution | c.70+2T>A | – | Chinese | Zhu et al. [15] |
Ex2 | Substitution | c.107C>G | p.S36* | Pakistan | McKibbin et al. [16] |
Ex2 | Substitution | c.424G>T | p.G142* | uncertain | Beryozkin et al. [17] |
Ex2 | Substitution | c.471C>A | p.C157* | Chinese | Zhu et al. [15] |
Ex2 | Duplication | c.481dupG | p.A161Gfs*8 | Spanish | Corton et al. [13] |
Ex2 | Deletion | c.498_506del | p.I167_G169del | England | Ahmed et al. [18] |
Ex2 | Deletion | c.613_619del | p.I205Dfs*13 | Spanish | Corton et al. [13] |
Ex2 | Substitution | c.614T>C | p.I205T | England | Henderson et al. [12] |
Ex3 | Substitution | c.664G>A | p.E222K | Chinese | Li et al. [19] |
Ex3 | Duplication | c.668dupT | p.L223Ffs*4 | Japanese | Hosono et al. [14] |
Ex3 | Duplication | c.733dupG | p.A245Gfs*16 | Japanese | Hosono et al. [14] |
Ex3 | Substitution | c.866C>T | p.T289M | Italian | Simonelliet al. [11] |
Ex3 | Substitution | c.998G>A | p.G333D | Korea | Moon et al. [20] |
Ex6 | Deletion | c.1334_1740del | p.C445Yfs*8 | Japanese | Hosono et al. [14] |
Ex6 | Substitution | c.1405T>G | p.C469G | Chinese | Zhu et al. [15] |
Ex6 | Substitution | c.1429G>A | p.G477R | Chinese | Yang et al. [6] |
Ex6 | Substitution | c.1499C>G | p.S500* | Chinese | this study |
Ex6 | Duplication | c.1567dupC | p.L523Pfs*28 | Japanese | Hosono et al. [14] |
Ex6 | Substitution | c.1576C>T | p.R526* | Chinese | |
Ex6 | Substitution | c.1604T>C | p.L535P | Spanish | Corton et al. [13] |
Ex6 | Substitution | c.1678C>G | p.H560D | Chinese | Zhu et al. [15] |
Ex6 | Substitution | c.1690G>T | p.D564Y | Spanish | Corton et al. [13] |
Ex6 | Substitution | c.1750G>T | p.D584N | Uncertain | Hanein et al. [10] |
Ex6 | Substitution | c.1831T>C | p.S611P | Chinese | Yang et al. [6] |
Ex6 | Substitution | c.1841G>T | p.G614V | Chinese | Chen et al. [21] |
Ex6 | Deletion | c.1842delT | p.G614Gfs*6 | Uncertain | Beryozkin et al. [17] |
Ex6 | Substitution | c.1903T>C | p.S635P | Chinese | Li et al. [19] |
Ex6 | Substitution | c.2107G>T | p.E703* | Iran | Saberi et al. [22] |
Ex6 | Substitution | c.2128G>C | p.E710Q | Uncertain | Hanein et al. [10] |
Ex6 | Substitution | c.2128+1G>A | - | Iran | Saberi et al. [22] |
Ex7 | Substitution | c.2222T>C | p.M741T | Uncertain | Hanein et al. [10] |
Ex7 | Deletion | c.2227delG | p.V743Sfs*11 | Spanish | Corton et al. [13] |
Ex7 | Substitution | c.2234C>T | p.T745M | Chinese | Yang et al. [6] |
Ex7 | Deletion | c.2244_47del | p.S749del | Spanish | Corton et al. [13] |
Ex7 | Duplication | c.2276_2279dupCTTA | p.S758Sfs*33 | Iran | Saberi et al. [22] |
Ex7 | Substitution | c.2290C>T | p.R764C | Uncertain | Hanein et al. [10] |
Ex7 | Substitution | c.2309G>T | p.G770V | Spanish | Corton et al. [13] |
Ex7 | Substitution | c.2401A>T | p.K801* | Italian | Simonelli et al. [11] |
Ex7 | Substitution | c.2479G>T | p.G827* | Uncertain | Hanein et al. [10] |
Ex7 | Substitution | c.2536G>T | p.G846* | Hungarian | Vamos et al. [23] |
Ex7 | Substitution | c.2548G>A | p.G850S | England | Henderson et al. [12] |
Ex7 | Substitution | c.2555T>C | p.I852T | Uncertain | Hanein et al. [10] |
Ex7 | Deletion | c.2676delG* | p.K892Nfs*95 | England | Henderson et al. [12] |
Ex8 | Substitution | c.2677-2A>C | – | Chinese | Lin Li et al. [24] |
Ex8 | Deletion | c.2678-2682del | p.S893Sfs*14 | Uncertain | Beryozkin et al. [17] |
Ex8 | Substitution | c.2688T>A | p.C896* | Spanish | Corton et al. [13] |
Ex8 | Substitution | c.2714G>A | p.R905Q | Chinese | Zhu et al. [15] |
Ex9 | Substitution | c.2843G>A | p.C948Y | Polish | Skorczyk et al. [25] |
Ex9 | Substitution | c.2843G>T | p.C948F | Uncertain | Hanein et al. [10] |
Ex9 | Insertion | c.2853_2854insT | p.A952fs*972 | Uncertain | Hanein et al. [10] |
Ex9 | Substitution | c.2945C>A | p.T982K | Chinese | Zhu et al. [15] |
Ex9 | Substitution | c.3002T>A | p.I1001N | Spanish | Corton et al. [13] |
Ex9 | Substitution | c.3017C>A | p.S1006Y | Chinese | Zhu et al. [15] |
Ex9 | Substitution | c.3023T>G | p.L1008* | Chinese | Zhu et al. [15] |
Ex9 | Deletion | c.3059delT | p.M1020Sfs*1 | Chinese | Yang et al. [6] |
Ex9 | Substitution | c.3068T>G | p.L1023R | Japanese | Hosono et al. [14] |
Ex9 | Substitution | c.3074G>T | p.S1025I | Uncertain | Hanein et al. [10] |
Ex9 | Substitution | c.3152 G>A | p.W1051* | Spanish | Corton et al. [13] |
Ex9 | Substitution | c.3218T>A | p.L1073Q | Chinese | Zhu et al. [15] |
Ex9 | Substitution | c.3221T>C | p.L1074S | Chinese | Lin Li et al.[16] |
Ex9 | Substitution | c.3290T>A | p.L1097Q | Chinese | Zhu et al. [15] |
Ex9 | Substitution | c.3299T>C | p.I1100T | Spanish | Corton et al. [13] |
Ex9 | Substitution | c.3307G>A | p.G1103R | Italian | Simonelli et al. [11] |
Ex9 | Substitution | c.3320T>G | p.L1107R | Uncertain | Hanein et al. [10] |
Ex9 | Deletion | c.3345delT | p.G1115fs*1140 | Uncertain | Hanein et al. [10] |
Ex9 | Substitution | c.3466G>T | p.D1156Y | Uncertain | Hollanderet al. [26] |
Ex9 | Substitution | c.3482A>G | p.Y1161C | Spanish | Corton et al. [13] |
Ex9 | Duplication | c.3542dupG | p.C1181Wfs*12 | England | Henderson et al. [12] |
Ex11 | Substitution | c.3879G>A | p.W1293* | Uncertain | Hanein et al. [10] |
Ex11 | Substitution | c.3961T>A | p.C1321G | Uncertain | Hanein et al. [10] |
Ex11 | Deletion | c.3988delG | p.E1330fs*1340 | Uncertain | Hanein et al. [10] |
Ex11 | Deletion | c.4000delG | p.V1334W fs*7 | Spanish | Corton et al. [13] |
Ex12 | Substitution | c.4005+1G>A | – | Chinese | Zhu et al. [15] |
Ex12 | Substitution | c.4013+1G>T | – | Uncertain | Hollanderet al. [21] |
Ex12 | Deletion | c.4121_4130del | p.R1374fs*1397 | Uncertain | Hanein et al. [10] |