PDB ID | 1HOX | CHAIN | A |
---|---|---|---|
Protein name | PHOSPHOGLUCOSE ISOMERASE | ||
Uniprot Accession | Q9N1E2 | ||
The number of similar proteins | 28 | ||
The number of binding states | 2 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
4_THR | ILE |
ClinVar chr19:34856185 |
rs267606852
|
Pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
5_ARG | TRP |
8.3kJPN chr19:34856187 |
rs761450928
|
- | 0.0016 | - | |
19_HIS | PRO |
ClinVar chr19:34856230 |
rs137853586
|
Pathogenic | - | Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency [MedGen:C4016321] | |
19_HIS | TYR |
8.3kJPN chr19:34856229 |
-
|
- | 0.0001 | - | |
31_ALA | VAL |
8.3kJPN chr19:34856266 |
-
|
- | 0.0001 | - | |
44_ASN | HIS |
8.3kJPN chr19:34857260 |
-
|
- | 0.0001 | - | |
47_HIS | ARG |
8.3kJPN chr19:34857270 |
-
|
- | 0.0001 | - | |
76_VAL | MET |
8.3kJPN chr19:34857703 |
rs201126335
|
- | 0.0012 | - | |
82_ARG | GLN |
8.3kJPN chr19:34857722 |
rs777898740
|
- | 0.0001 | - | |
95_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] | |
100_VAL | MET |
ClinVar chr19:34859506 |
rs757341382
|
Pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
103_ARG | TRP |
8.3kJPN chr19:34859515 |
-
|
- | 0.0001 | - | |
105_ARG | GLN |
gnomAD chr19:34859522 |
rs143827313
|
- | 0.000377812 | - | |
105_ARG | GLN |
8.3kJPN chr19:34859522 |
rs143827313
|
- | 0.0001 | - | |
130_SER | CYS |
8.3kJPN chr19:34859597 |
-
|
- | 0.0004 | - | |
134_ARG | CYS |
8.3kJPN chr19:34868408 |
rs200500416
|
- | 0.0006 | - | |
158_GLY | SER |
8.3kJPN chr19:34868480 |
rs137853582
|
- | 0.0001 | - | |
163_PRO | LEU |
8.3kJPN chr19:34868644 |
-
|
- | 0.0001 | - | |
179_ARG | PRO |
gnomAD chr19:34868692 |
rs148548669
|
- | 0.000298234 | - | |
180_VAL | ILE |
8.3kJPN chr19:34868694 |
rs750076196
|
- | 0.0001 | - | |
207_ILE | THR |
gnomAD chr19:34868776 |
rs8191371
|
- | 0.0156344 | - | |
207_ILE | THR |
8.3kJPN chr19:34868776 |
rs8191371
|
- | 0.0004 | - | |
223_THR | MET |
8.3kJPN chr19:34869876 |
rs61754634
|
- | 0.0001 | - | |
224_ALA | SER |
8.3kJPN chr19:34869878 |
-
|
- | 0.0001 | - | |
226_GLU | ASP |
gnomAD chr19:34869886 |
rs573256848
|
- | 0.000258482 | - | |
252_VAL | ALA |
8.3kJPN chr19:34872378 |
-
|
- | 0.0001 | - | |
262_MET | ILE |
8.3kJPN chr19:34872409 |
-
|
- | - | - | |
272_ARG | HIS |
ClinVar chr19:34884166 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
272_ARG | CYS |
8.3kJPN chr19:34884165 |
rs748408705
|
- | 0.0001 | - | |
293_GLU | LYS |
gnomAD chr19:34884647 |
rs560277140
|
- | 0.000203035 | - | |
297_SER | LEU |
8.3kJPN chr19:34884660 |
rs763375030
|
- | 0.0008 | - | |
307_ARG | HIS |
gnomAD chr19:34884832 |
rs2230294
|
- | 0.000199154 | - | |
308_THR | MET |
gnomAD chr19:34884835 |
rs138381340
|
- | 0.000167283 | - | |
310_PRO | ALA |
8.3kJPN chr19:34884840 |
-
|
- | 0.0002 | - | |
322_LEU | MET |
8.3kJPN chr19:34884876 |
-
|
- | 0.0001 | - | |
328_ASN | SER |
8.3kJPN chr19:34884895 |
-
|
- | 0.0001 | - | |
336_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] | |
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 due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
346_ARG | HIS |
ClinVar chr19:34884949 |
rs137853583
|
Pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
346_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] | |
371_ASP | TYR |
8.3kJPN chr19:34887257 |
-
|
- | 0.0001 | - | |
374_THR | ARG |
ClinVar chr19:34887267 |
rs267606853
|
Pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
379_TRP | TER |
ClinVar chr19:34887283 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
379_TRP | SER |
8.3kJPN chr19:34887282 |
-
|
- | 0.0001 | - | |
381_GLU | TER |
ClinVar chr19:34887287 |
rs2074944986
|
Pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
381_GLU | LYS |
8.3kJPN chr19:34887287 |
-
|
- | 0.0001 | - | |
409_VAL | ILE |
gnomAD chr19:34887521 |
rs546774763
|
- | 0.000234727 | - | |
417_LYS | ARG |
8.3kJPN chr19:34887546 |
-
|
- | 0.0001 | - | |
445_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] | |
451_ALA | VAL |
8.3kJPN chr19:34890197 |
rs199570323
|
- | 0.0005 | - | |
455_PRO | ALA |
gnomAD chr19:34890208 |
rs139853344
|
- | 0.000672771 | - | |
471_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] | |
471_ARG | HIS |
ClinVar chr19:34890477 |
-
|
Pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
499_VAL | ILE |
gnomAD chr19:34890647 |
rs552424309
|
- | 0.000139172 | - | |
531_SER | GLY |
gnomAD chr19:34890858 |
rs768287124
|
- | 0.000103429 | - | |
538_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] | |
549_LYS | GLU |
ClinVar chr19:34890912 |
rs933668811
|
Likely pathogenic | - | Hemolytic anemia due to glucophosphate isomerase deficiency [MONDO:MONDO:0013275,MedGen:C3150730,OMIM:613470,Orphanet:712] | |
553_GLU | LYS |
8.3kJPN chr19:34890924 |
-
|
- | 0.0001 | - |