|
Human Cx 46 mutation related to cataract. |
|
AA |
Cataract phenotype |
Ref |
G2N |
Nuclear pulverulent and posterior polar cataracts |
260 |
D3Y |
Pulverulent congenital cataracts |
219 |
L 11S |
"Ant-egg" cataract |
221 |
T19M |
Posterior-polar cataract |
261 |
F32L |
Autosomal dominant congenital nuclear pulverulent cataract |
262 |
F32L |
Autosomal dominant congenital cataract ADCC |
263 |
R33L |
Granular embryonal cataract |
264 |
V28M |
Variable cataract |
220 |
E42K |
Congenital Nuclear cataract |
265 |
V44M |
Nuclear cataract |
266 |
D47N |
Congenital nuclear cataract |
267 |
P59L |
Autosomal dominant "nuclear punctate" cataracts |
268 |
N63S |
Autosomal dominant congenital cataract ADCC |
218 |
R67H |
Autosomal dominant congenital cataract with incomplete penetrance |
269 |
R76G |
Total cataract |
220 |
T87M |
"Pearl box" cataract |
270 |
N188T |
Congenital nuclear pulverulent cataract |
271 |
P187L |
Homogeneous "zonular pulverulent" cataracts |
272 |
P187S |
Conqenital nuclear pulverulent cataracts |
273 |
|
|
|
|
Human Cx SO mutations related t o cataract. |
|
AA |
Cataract phenotype |
Ref |
L7Q |
Pulverulent cataract with smaller eyes |
274 |
G22R |
Dense cataract and microphthalmia |
275 |
R23T |
Progressive dense nuclear |
276 |
R23T |
Nuclear cataract |
277 |
131T |
Nuclear cataract |
278 |
T39R |
Congenital cataract and microcornea |
279 |
V44E |
Cataract and microcornea |
280 |
W45S |
Jellyfish-like cataract and microcornea |
281 |
G46R |
Congenital cataract and microcornea |
279 |
D47N |
Nuclear pulverulent cataract |
282 |
D47Y |
Nuclear cataract |
283 |
D47A |
Nuclear cataract |
284 |
D47A |
Nuclear cataract |
285 |
E48K |
Zonular nuclear pulverulent |
286 |
S50P |
whole cataracts and microphthalmia |
287 |
V64A |
Dominant congenital cataract |
288 |
V64G |
Nuclear cataract |
289 |
V79L |
Full moon like with Y-sutural opacities |
290 |
P88S |
Zonular pulverulent |
291 |
P88Q |
"Balloon-like" cataract with Y -sutural opacities |
292 |
P88Q |
Lamellar pulverulent cataract |
252 |
P189L |
Nuclear cataract and microcornea |
293 |
R198Q |
Posterior subcapsular cataract and microcornea |
280 |
R198W |
congenital cataract-microcornea syndrome |
294 |
T203N |
Autosomal dominant cataract |
295 |
D- 248 |
total cataract and nystagmus |
296 |
D -CT |
Triangular nuclear cataract |
297 |
S258F |
Autosomal dominant nuclear cataract |
298 |
S276F |
Pulverulent nuclear cataract |
299 |
L281C |
Zonular cataract |
300 |
