PDB ID 1KR2     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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
1KR2 (CHAIN: A)
1 Q9HAN9   Q9HAN9   Q9HAN9   Q9HAN9  
2 Monomeric state
3 1GZU   1GZU  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MENSEKTEVV   LLACGSFNPI   TNMHLRLFEL   AKDYMNGTGR   YTVVKGIISP   50
51   VGDAYKKKGL   IPAYHRVIMA   ELATKNSKWV   EVDTWESLQK   EWKETLKVLR   100
101   HHQEKLEASD   CDHQQNSPTL   ERPGRKRKWT   ETQDSSQKKS   LEPKTKAVPK   150
151   VKLLCGADLL   ESFAVPNLWK   SEDITQIVAN   YGLICVTRAG   NDAQKFIYES   200
201   DVLWKHRSNI   HVVNEWIAND   ISSTKIRRAL   RRGQSIRYLV   PDLVQEYIEK   250
251   HNLYSSESED   RNAGVILAPL   QRNTAEAKT       300

Variants

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]
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.