PDB ID | 1KQO | CHAIN | A |
---|---|---|---|
Protein name | NICOTINAMIDE MONONUCLEOTIDE ADENYLYL TRANSFERASE | ||
Uniprot Accession | Q9HAN9 | ||
The number of similar proteins | 22 | ||
The number of binding states | 3 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
1KQO (CHAIN: A) | |
1 | Q9HAN9 Q9HAN9 Q9HAN9 Q9HAN9 |
2 | Monomeric state |
3 | 1GZU 1GZU |
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
5_GLU | LYS |
8.3kJPN chr1:10032144 |
rs747825699
|
- | 0.0001 | - | |
8_GLU | ALA |
gnomAD chr1:10032154 |
rs61740429
|
- | 0.000255061 | - | |
9_VAL | MET | VAR_068856 |
rs387907294
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
9_VAL | MET |
ClinVar chr1:10032156 |
rs387907294
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
13_ALA | THR | VAR_068857 |
rs138613460
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
13_ALA | ASP |
ClinVar chr1:10032169 |
rs1641702737
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
13_ALA | THR |
gnomAD chr1:10032168 |
rs138613460
|
- | 0.000163276 | - | |
18_ASN | SER |
ClinVar chr1:10032184 |
rs748902766
|
Pathogenic/Likely pathogenic | - | not provided|Retinal dystrophy|Leber congenital amaurosis 9 [MedGen:C3661900|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
20_ILE | ASN | VAR_068858 |
rs761948762
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
33_ASP | GLY | VAR_068859 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
35_MET | THR | VAR_068860 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
35_MET | THR |
ClinVar chr1:10032235 |
rs1641704371
|
Likely pathogenic | - | Retinal dystrophy [Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862] | |
54_ALA | VAL | VAR_068861 |
rs760965874
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
55_TYR | TER |
ClinVar chr1:10035699 |
-
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
60_LEU | ARG |
ClinVar chr1:10035713 |
rs1641789657
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
66_ARG | TRP | VAR_068862 |
rs763325435
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
66_ARG | TRP |
ClinVar chr1:10035730 |
rs763325435
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
66_ARG | TRP |
8.3kJPN chr1:10035730 |
rs763325435
|
- | 0.0001 | - | |
67_VAL | PHE | VAR_068863 |
rs756903689
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
69_MET | VAL | VAR_068864 |
rs372066126
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
69_MET | LEU |
ClinVar chr1:10035739 |
rs372066126
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
69_MET | VAL |
ClinVar chr1:10035739 |
rs372066126
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
72_LEU | HIS | VAR_068865 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
80_VAL | MET |
ClinVar chr1:10035772 |
rs1641791811
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
82_VAL | PHE |
ClinVar chr1:10035778 |
rs1641792104
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
82_VAL | ALA |
ClinVar chr1:10035779 |
rs986437232
|
Likely pathogenic | - | Leber congenital amaurosis 9|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MONDO:MONDO:0031007,MedGen:C5543257,OMIM:619260,Orphanet:611207] | |
85_TRP | TER |
ClinVar chr1:10035789 |
rs2101701634
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
85_TRP | TER |
ClinVar chr1:10035788 |
-
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
91_GLU | LYS |
ClinVar chr1:10035805 |
rs1271498710
|
Pathogenic/Likely pathogenic | - | Cone dystrophy|Leber congenital amaurosis 9 [MONDO:MONDO:0000455,MedGen:C0730290,Orphanet:1871|MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
98_VAL | GLY | VAR_068866 |
rs771336246
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
98_VAL | GLY |
ClinVar chr1:10035827 |
rs771336246
|
Pathogenic/Likely pathogenic | - | Retinal dystrophy|Leber congenital amaurosis 9|not provided|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0031007,MedGen:C5543257,OMIM:619260,Orphanet:611207] | |
107_GLU | TER |
ClinVar chr1:10041108 |
rs1641936336
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
147_ALA | PRO | VAR_068867 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
147_ALA | PRO |
ClinVar chr1:10041228 |
rs1570715470
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
151_VAL | PHE | VAR_068868 |
rs387907292
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
151_VAL | LEU |
8.3kJPN chr1:10042370 |
-
|
- | 0.0001 | - | |
153_LEU | PRO | VAR_068869 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
153_LEU | VAL | VAR_068870 |
rs387907293
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
153_LEU | VAL |
ClinVar chr1:10042376 |
rs387907293
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
153_LEU | PRO |
ClinVar chr1:10042377 |
rs1641966303
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
156_GLY | ARG | VAR_068871 |
rs1244511644
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
156_GLY | ARG |
ClinVar chr1:10042385 |
rs1244511644
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
162_SER | TYR |
ClinVar chr1:10042404 |
rs1553128102
|
Likely pathogenic | - | Leber congenital amaurosis [MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65] | |
165_VAL | ILE |
gnomAD chr1:10042412 |
rs202057799
|
- | 0.000457435 | - | |
167_ASN | ILE |
ClinVar chr1:10042419 |
rs1405020783
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
167_ASN | SER |
ClinVar chr1:10042419 |
rs1405020783
|
Pathogenic/Likely pathogenic | - | Leber congenital amaurosis 9|not provided [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900] | |
169_TRP | TER |
ClinVar chr1:10042426 |
rs371526758
|
Pathogenic | - | Leber congenital amaurosis 9|not provided [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900] | |
173_ASP | GLY | VAR_068872 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
173_ASP | GLY |
ClinVar chr1:10042437 |
rs1641967500
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
178_VAL | MET | VAR_068873 |
rs757724544
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
178_VAL | MET |
ClinVar chr1:10042451 |
rs757724544
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
178_VAL | MET |
8.3kJPN chr1:10042451 |
rs757724544
|
- | 0.0001 | - | |
181_TYR | CYS | VAR_068874 |
rs748913297
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
184_ILE | MET | VAR_068875 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
188_ARG | GLN |
8.3kJPN chr1:10042482 |
rs767485367
|
- | 0.0001 | - | |
197_ILE | VAL |
gnomAD chr1:10042508 |
rs145908106
|
- | 0.000338058 | - | |
197_ILE | VAL |
8.3kJPN chr1:10042508 |
rs145908106
|
- | 0.0008 | - | |
207_ARG | TRP | VAR_068876 |
rs142968179
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
207_ARG | TRP |
ClinVar chr1:10042538 |
rs142968179
|
Pathogenic | - | Leber congenital amaurosis 9|not provided [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900] | |
210_ILE | THR |
ClinVar chr1:10042548 |
rs1641970512
|
Pathogenic | - | Leber congenital amaurosis [MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65] | |
210_ILE | VAL |
8.3kJPN chr1:10042547 |
-
|
- | 0.0001 | - | |
215_GLU | TER |
ClinVar chr1:10042562 |
rs1345605596
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
216_TRP | SER |
ClinVar chr1:10042566 |
rs771954272
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
216_TRP | TER |
ClinVar chr1:10042567 |
-
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
217_ILE | ASN | VAR_068877 |
-
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
217_ILE | ASN |
ClinVar chr1:10042569 |
rs1641971124
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
218_ALA | THR |
8.3kJPN chr1:10042571 |
rs766479905
|
- | 0.0001 | - | |
237_ARG | CYS | VAR_068878 |
rs375110174
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
237_ARG | LEU | VAR_068879 |
rs368062092
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
237_ARG | LEU |
ClinVar chr1:10042629 |
rs368062092
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
237_ARG | CYS |
ClinVar chr1:10042628 |
rs375110174
|
Pathogenic/Likely pathogenic | - | Leber congenital amaurosis 9|Retinal dystrophy [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862] | |
237_ARG | CYS |
8.3kJPN chr1:10042628 |
rs375110174
|
- | 0.0005 | - | |
237_ARG | HIS |
8.3kJPN chr1:10042629 |
rs368062092
|
- | 0.0001 | - | |
239_LEU | SER | VAR_068880 |
rs778606847
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
239_LEU | SER |
ClinVar chr1:10042635 |
rs778606847
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
239_LEU | PHE |
ClinVar chr1:10042636 |
rs1641973290
|
Likely pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
241_PRO | SER |
ClinVar chr1:10042640 |
-
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] | |
246_GLU | GLN |
ClinVar chr1:10042655 |
rs747653875
|
Likely pathogenic | - | Leber congenital amaurosis [MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65] | |
251_HIS | PRO | VAR_068881 |
rs1208495291
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
254_TYR | CYS |
8.3kJPN chr1:10042680 |
-
|
- | 0.0002 | - | |
255_SER | ASN |
gnomAD chr1:10042683 |
rs138626416
|
- | 0.000869018 | - | |
255_SER | ASN |
8.3kJPN chr1:10042683 |
rs138626416
|
- | 0.0227 | - | |
257_GLU | LYS | VAR_068882 |
rs150726175
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
257_GLU | LYS |
ClinVar chr1:10042688 |
rs150726175
|
Pathogenic | - | Leber congenital amaurosis 9|not provided|Leber congenital amaurosis|7 conditions|Retinal dystrophy [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65|MedGen:C3661900|MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|7 conditions|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862] | |
257_GLU | LYS |
gnomAD chr1:10042688 |
rs150726175
|
- | 0.000702158 | - | |
259_GLU | ASP |
8.3kJPN chr1:10042696 |
-
|
- | 0.0001 | - | |
273_ASN | ASP | VAR_068883 |
rs387907291
|
LP/P | - | Leber congenital amaurosis 9 (LCA9) [MIM:608553] | |
273_ASN | ASP |
ClinVar chr1:10042736 |
rs387907291
|
Pathogenic | - | Leber congenital amaurosis 9 [MONDO:MONDO:0012056,MedGen:C1837873,OMIM:608553,Orphanet:65] |