| Type | Description |
|---|---|
| Definition | nicotinamide nucleotide adenylyltransferase 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-12-22 11:27:00 | Rare homozygous variant c.[271G > A] p.(Glu91Lys) and compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys) were identified in two cases of cone-rod dystrophy, respectively. | 29184169 |
| 2018-08-11 11:33:00 | Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene. | 28369829 |
| 2016-08-20 10:09:00 | Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. | 26316326 |
| 2016-06-11 11:58:00 | We confirmed a diagnosis of NMNAT1-associated Leber congenital amaurosis in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state. | 26464178 |
| 2015-10-03 10:55:00 | NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1 | 25988908 |
| Type | IDs |
|---|---|
| Synonymous | LCA9, NMNAT, PNAT1 |
| Gene |
UniProtKB-ID:
NMNA1_HUMAN,
A0A024R4E1_HUMAN,
B1AN62_HUMAN
UniprotKB:
Q9HAN9,
A0A024R4E1,
B1AN62
UniParc:
UPI0000041261,
UPI0000205EEC
EMBL:
AF459822,
AL603962,
AF459820,
AF459819,
AL357140,
AF459821,
AK026065,
CH471130,
BC014943,
AF459823,
AK315640,
AF312734,
AF314163
Ensembl:
ENSG00000173614
KO:
hsa:64802
|
| Nucleutide sequences |
EMBL-CDS:
EAW71635.1,
BAB15345.1,
AAL76934.1,
AAH14943.1,
AAG33629.1,
AAG33632.1,
BAG38007.1,
AAL76935.1,
EAW71636.1
Gene_ORFName:
hCG_1820992
Ensembl_TRS:
ENST00000377205,
ENST00000462686,
ENST00000403197
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000366410,
ENSP00000435134,
ENSP00000385131
RefSeq:
NP_001284708.1,
XP_016857596.1,
NP_073624.2,
XP_011540273.1,
NP_001284707.1,
XP_016857597.1
|
| Others |
UniRef100:
UniRef100_B1AN62,
UniRef100_Q9HAN9
UniRef90:
UniRef90_B1AN62,
UniRef90_Q9HAN9
UniRef50:
UniRef50_Q9HAN9,
UniRef50_B1AN62
UniGene:
Hs.633762
CCDS:
CCDS108.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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