rs1135401778
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
rs587783070
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
|
25130867 |
2014 |
rs1057518802
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1064796765
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1303044966
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1339616347
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs142285818
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1423415130
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554781700
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568480054
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs727502810
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs765919785
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs863225045
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein.
|
31422822 |
2019 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein.
|
31422822 |
2019 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts.
|
26732753 |
2016 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts.
|
26732753 |
2016 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Crystal structure of the cataract-causing P23T γD-crystallin mutant.
|
23670788 |
2013 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Crystal structure of the cataract-causing P23T γD-crystallin mutant.
|
23670788 |
2013 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin.
|
22669729 |
2012 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin.
|
22669729 |
2012 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained.
|
19275895 |
2009 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained.
|
19275895 |
2009 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |