PDB ID 2CXP CHAIN A
Protein name Glucose-6-phosphate isomerase
Uniprot Accession P06745
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
2CXP (CHAIN: A)
1 P06745  
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partners
  1
  0
Sequence information
1   MAALTRNPQF   QKLLEWHRAN   SANLKLRELF   EADPERFNNF   SLNLNTNHGH   50
51   ILVDYSKNLV   SKEVMQMLVE   LAKSRGVEAA   RDNMFSGSKI   NYTEDRAVLH   100
101   VALRNRSNTP   IKVDGKDVMP   EVNRVLDKMK   SFCQRVRSGD   WKGYTGKSIT   150
151   DIINIGIGGS   DLGPLMVTEA   LKPYSKGGPR   VWFVSNIDGT   HIAKTLASLS   200
201   PETSLFIIAS   KTFTTQETIT   NAETAKEWFL   EAAKDPSAVA   KHFVALSTNT   250
251   AKVKEFGIDP   QNMFEFWDWV   GGRYSLWSAI   GLSIALHVGF   DHFEQLLSGA   300
301   HWMDQHFLKT   PLEKNAPVLL   ALLGIWYINC   YGCETHALLP   YDQYMHRFAA   350
351   YFQQGDMESN   GKYITKSGAR   VDHQTGPIVW   GEPGTNGQHA   FYQLIHQGTK   400
401   MIPCDFLIPV   QTQHPIRKGL   HHKILLANFL   AQTEALMKGK   LPEEARKELQ   450
451   AAGKSPEDLE   KLLPHKVFEG   NRPTNSIVFT   KLTPFILGAL   IAMYEHKIFV   500
501   QGIMWDINSF   DQWGVELGKQ   LAKKIEPELE   GSSAVTSHDS   STNGLISFIK   550
551   QQRDTKL           600
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
5_THR ILE ClinVar
chr19:34856185
rs267606852 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
20_HIS PRO ClinVar
chr19:34856230
rs137853586 Pathogenic Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
159_GLY SER ClinVar
chr19:34868480
rs137853582 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
224_THR MET ClinVar
chr19:34869876
rs61754634 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
339_LEU PRO ClinVar
chr19:34884925
rs137853587 Pathogenic Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
343_GLN ARG ClinVar
chr19:34884937
rs267606851 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
347_ARG HIS ClinVar
chr19:34884949
rs137853583 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
375_THR ARG ClinVar
chr19:34887267
rs267606853 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
446_ARG TER ClinVar
chr19:34890178
rs774419705 Likely pathogenic Disorder of glycolysis [MedGen:CN924910,Orphanet:ORPHA308459]
525_ILE THR ClinVar
chr19:34890838
rs137853584 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]
539_ASP ASN ClinVar
chr19:34890879
rs137853585 Pathogenic Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency [MedGen:C3150730,OMIM:613470,Orphanet:ORPHA712]