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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Only interaction residues
#binding
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
Allele
Frequency
(> 0.0001)
Disease name
5_THR ILE ClinVar
chr19:34856185
rs267606852
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
6_ARG TRP 8.3kJPN
chr19:34856187
rs761450928
- 0.0016 -
20_HIS PRO ClinVar
chr19:34856230
rs137853586
Pathogenic - Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321]
20_HIS TYR 8.3kJPN
chr19:34856229
-
- 0.0001 -
32_ALA VAL 8.3kJPN
chr19:34856266
-
- 0.0001 -
45_ASN HIS 8.3kJPN
chr19:34857260
-
- 0.0001 -
48_HIS ARG 8.3kJPN
chr19:34857270
-
- 0.0001 -
77_VAL MET 8.3kJPN
chr19:34857703
rs201126335
- 0.0012 -
83_ARG GLN 8.3kJPN
chr19:34857722
rs777898740
- 0.0001 -
96_ARG TER ClinVar
chr19:34859491
rs781245249
Pathogenic - not provided|Hemolytic anemia due to glucophosphate isomerase deficiency [MedGen:C3661900|MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
101_VAL MET ClinVar
chr19:34859506
rs757341382
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
104_ARG TRP 8.3kJPN
chr19:34859515
-
- 0.0001 -
106_ARG GLN gnomAD
chr19:34859522
rs143827313
- 0.000377812 -
106_ARG GLN 8.3kJPN
chr19:34859522
rs143827313
- 0.0001 -
131_SER CYS 8.3kJPN
chr19:34859597
-
- 0.0004 -
135_ARG CYS 8.3kJPN
chr19:34868408
rs200500416
- 0.0006 -
159_GLY SER 8.3kJPN
chr19:34868480
rs137853582
- 0.0001 -
164_PRO LEU 8.3kJPN
chr19:34868644
-
- 0.0001 -
180_ARG PRO gnomAD
chr19:34868692
rs148548669
- 0.000298234 -
181_VAL ILE 8.3kJPN
chr19:34868694
rs750076196
- 0.0001 -
208_ILE THR gnomAD
chr19:34868776
rs8191371
- 0.0156344 -
208_ILE THR 8.3kJPN
chr19:34868776
rs8191371
- 0.0004 -
224_THR MET 8.3kJPN
chr19:34869876
rs61754634
- 0.0001 -
225_ALA SER 8.3kJPN
chr19:34869878
-
- 0.0001 -
227_GLU ASP gnomAD
chr19:34869886
rs573256848
- 0.000258482 -
253_VAL ALA 8.3kJPN
chr19:34872378
-
- 0.0001 -
263_MET ILE 8.3kJPN
chr19:34872409
-
- - -
273_ARG HIS ClinVar
chr19:34884166
-
Pathogenic - not provided [MedGen:C3661900]
273_ARG CYS 8.3kJPN
chr19:34884165
rs748408705
- 0.0001 -
294_GLU LYS gnomAD
chr19:34884647
rs560277140
- 0.000203035 -
298_SER LEU 8.3kJPN
chr19:34884660
rs763375030
- 0.0008 -
308_ARG HIS gnomAD
chr19:34884832
rs2230294
- 0.000199154 -
309_THR MET gnomAD
chr19:34884835
rs138381340
- 0.000167283 -
311_PRO ALA 8.3kJPN
chr19:34884840
-
- 0.0002 -
323_LEU MET 8.3kJPN
chr19:34884876
-
- 0.0001 -
329_ASN SER 8.3kJPN
chr19:34884895
-
- 0.0001 -
337_ALA THR ClinVar
chr19:34884918
rs1238884216
Pathogenic - not provided|Hemolytic anemia due to glucophosphate isomerase deficiency [MedGen:C3661900|MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
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 due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
347_ARG HIS ClinVar
chr19:34884949
rs137853583
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
347_ARG CYS ClinVar
chr19:34884948
rs758132799
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency|not provided [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712|MedGen:C3661900]
372_ASP TYR 8.3kJPN
chr19:34887257
-
- 0.0001 -
375_THR ARG ClinVar
chr19:34887267
rs267606853
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
380_TRP TER ClinVar
chr19:34887283
-
Pathogenic - not provided [MedGen:C3661900]
380_TRP SER 8.3kJPN
chr19:34887282
-
- 0.0001 -
382_GLU TER ClinVar
chr19:34887287
rs2074944986
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
382_GLU LYS 8.3kJPN
chr19:34887287
-
- 0.0001 -
410_VAL ILE gnomAD
chr19:34887521
rs546774763
- 0.000234727 -
418_LYS ARG 8.3kJPN
chr19:34887546
-
- 0.0001 -
446_ARG TER ClinVar
chr19:34890178
rs774419705
Pathogenic/Likely pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
452_ALA VAL 8.3kJPN
chr19:34890197
rs199570323
- 0.0005 -
456_PRO ALA gnomAD
chr19:34890208
rs139853344
- 0.000672771 -
472_ARG CYS ClinVar
chr19:34890476
rs1364382189
Pathogenic - not provided|Hemolytic anemia due to glucophosphate isomerase deficiency [MedGen:C3661900|MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
472_ARG HIS ClinVar
chr19:34890477
-
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
500_VAL ILE gnomAD
chr19:34890647
rs552424309
- 0.000139172 -
532_SER GLY gnomAD
chr19:34890858
rs768287124
- 0.000103429 -
539_ASP ASN ClinVar
chr19:34890879
rs137853585
Pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency|not provided [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712|MedGen:C3661900]
550_LYS GLU ClinVar
chr19:34890912
rs933668811
Likely pathogenic - Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712]
554_GLU LYS 8.3kJPN
chr19:34890924
-
- 0.0001 -
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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.