| Type | Description |
|---|---|
| Definition | nyctalopin |
| Date | Results | Publications |
|---|---|---|
| 2020-07-11 10:04:00 | Frameshift mutation in NYX gene is associated with congenital stationary night blindness. | 31826698 |
| 2016-08-06 11:15:00 | Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. | 26234941 |
| 2015-09-12 11:35:00 | Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. | 25802485 |
| 2014-03-15 12:26:00 | Loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations. | 23289809 |
| 2013-11-23 11:58:00 | A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. | 23406521 |
| Type | IDs |
|---|---|
| Synonymous | CLRP, CSNB1, CSNB1A, CSNB4, NBM1 |
| Gene |
UniProtKB-ID:
NYX_HUMAN
UniprotKB:
Q9GZU5
UniParc:
UPI0000130B37
EMBL:
Z93015,
BC112242,
CH471141,
AJ278865,
AF254868
Ensembl:
ENSG00000188937
KO:
hsa:60506
|
| Nucleutide sequences |
EMBL-CDS:
AAG42685.1,
CAC19014.1,
EAW59401.1,
EAW59399.1,
AAI12243.1
Ensembl_TRS:
ENST00000378220,
ENST00000342595
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367465,
ENSP00000340328
RefSeq:
NP_072089.1,
NP_001365406.1
|
| Others |
UniRef100:
UniRef100_Q9GZU5
UniRef90:
UniRef90_Q9GZU5
UniRef50:
UniRef50_Q9GZU5
UniGene:
Hs.302019
CCDS:
CCDS14256.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
Sun Yat-sen University |
3 |
| 2 |
Institute of Ophthalmology |
2 |
| 3 |
Institute of Medical Genetics |
2 |
| 4 |
Institute for Research in Biomedicine (IRB Barcelona) |
1 |
| 5 |
Biogen Inc., 250 Binney Street, Cambridge, Massachusetts 02142, USA. |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
Richard A Gibbs |
3 |
| 2 |
Alfons Meindl |
3 |
| 3 |
Shiqiang Li |
3 |
| 4 |
Qingjiong Zhang |
3 |
| 5 |
Xiangming Guo |
3 |