PDB ID 1DQR CHAIN B
Protein name PHOSPHOGLUCOSE ISOMERASE
Uniprot Accession Q9N1E2
The number of similar proteins 24
The number of binding states 1
The number of binding partners 1
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
1DQR (CHAIN: B)
1 Q9N1E2  
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partners
  1
  0
Sequence information
1   AALTRNPQFQ   KLQQWHREHG   SELNLRHLFD   TDKERFNHFS   LTLNTNHGHI   50
51   LLDYSKNLVT   EEVMHMLLDL   AKSRGVEAAR   ESMFNGEKIN   STEDRAVLHV   100
101   ALRNRSNTPI   VVDGKDVMPE   VNKVLDKMKA   FCQRVRSGDW   KGYTGKTITD   150
151   VINIGIGGSD   LGPLMVTEAL   KPYSSGGPRV   WFVSNIDGTH   IAKTLACLNP   200
201   ESSLFIIASK   TFTTQETITN   AKTAKDWFLL   SAKDPSTVAK   HFVALSTNTA   250
251   KVKEFGIDPQ   NMFEFWDWVG   GRYSLWSAIG   LSIALHVGFD   NFEQLLSGAH   300
301   WMDQHFRTTP   LEKNAPVLLA   MLGIWYINCF   GCETQAVLPY   DQYLHRFAAY   350
351   FQQGDMESNG   KYITKSGARV   DHQTGPIVWG   EPGTNGQHAF   YQLIHQGTKM   400
401   IPCDFLIPVQ   TQHPIRKGLH   HKILLANFLA   QTEALMKGKS   TEEARKELQA   450
451   AGKSPEDLMK   LLPHKVFEGN   RPTNSIVFTK   LTPFILGALI   AMYEHKIFVQ   500
501   GVVWDINSFD   QWGVELGKQL   AKKIEPELDG   SSPVTSHDSS   TNGLINFIKQ   550
551   QREAKIQ           600
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
4_THR ILE ClinVar
chr19:34856185
rs267606852 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
19_HIS PRO ClinVar
chr19:34856230
rs137853586 Pathogenic Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
158_GLY SER ClinVar
chr19:34868480
rs137853582 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
223_THR MET ClinVar
chr19:34869876
rs61754634 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
338_LEU PRO ClinVar
chr19:34884925
rs137853587 Pathogenic Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
342_GLN ARG ClinVar
chr19:34884937
rs267606851 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
346_ARG HIS ClinVar
chr19:34884949
rs137853583 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
374_THR ARG ClinVar
chr19:34887267
rs267606853 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
445_ARG TER ClinVar
chr19:34890178
rs774419705 Likely pathogenic Disorder of glycolysis [MedGen:CN924910,Orphanet:ORPHA308459]
524_ILE THR ClinVar
chr19:34890838
rs137853584 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
538_ASP ASN ClinVar
chr19:34890879
rs137853585 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]