PDB ID | 1HTI | CHAIN | A |
---|---|---|---|
Protein name | TRIOSEPHOSPHATE ISOMERASE | ||
Uniprot Accession | P60174 | ||
The number of similar proteins | 51 | ||
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 | |
---|---|---|---|---|---|---|---|
1_ALA | VAL |
8.3kJPN chr12:6976735 |
rs781891860
|
- | 0.0001 | - | |
26_GLY | SER |
8.3kJPN chr12:6976809 |
-
|
- | 0.0001 | - | |
33_VAL | ALA |
8.3kJPN chr12:6976831 |
-
|
- | 0.0001 | - | |
41_CYS | TYR | VAR_007534 |
rs121964848
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
41_CYS | TYR |
ClinVar chr12:6978037 |
rs121964848
|
Pathogenic | - | Triosephosphate isomerase deficiency [MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868] | |
55_LEU | VAL |
8.3kJPN chr12:6978078 |
-
|
- | 0.0001 | - | |
62_ALA | GLY |
8.3kJPN chr12:6978100 |
-
|
- | 0.0001 | - | |
72_GLY | ALA | VAR_007535 |
-
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
104_GLU | ASP | VAR_007536 |
rs121964845
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
104_GLU | ASP |
ClinVar chr12:6978338 |
rs121964845
|
Pathogenic/Likely pathogenic | - | Triosephosphate isomerase deficiency|not provided [MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868|MedGen:C3661900] | |
113_VAL | ALA |
8.3kJPN chr12:6978438 |
-
|
- | 0.0001 | - | |
118_ALA | VAL |
8.3kJPN chr12:6978453 |
-
|
- | 0.0004 | - | |
122_GLY | ARG | VAR_007537 |
rs121964846
|
LB/B | - | - | |
145_GLU | TER |
ClinVar chr12:6978533 |
rs121964850
|
Pathogenic | - | Triosephosphate isomerase deficiency [MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868] | |
149_VAL | PHE |
gnomAD chr12:6978545 |
rs150585849
|
- | 0.000552882 | - | |
154_VAL | MET | VAR_007538 |
rs188138723
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
154_VAL | MET |
gnomAD chr12:6978857 |
rs188138723
|
- | 0.0012088 | - | |
163_ALA | GLY |
8.3kJPN chr12:6978885 |
-
|
- | 0.0001 | - | |
170_ILE | VAL | VAR_007539 |
rs121964849
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
170_ILE | VAL |
ClinVar chr12:6978905 |
rs121964849
|
Pathogenic | - | Triosephosphate isomerase deficiency [MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868] | |
196_VAL | ILE |
8.3kJPN chr12:6979258 |
rs782801396
|
- | 0.0001 | - | |
231_VAL | MET | VAR_007540 |
rs1555132614
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
240_PHE | LEU | VAR_007541 |
rs121964847
|
LP/P | - | Triosephosphate isomerase deficiency (TPID) [MIM:615512] | |
240_PHE | LEU |
ClinVar chr12:6979518 |
rs121964847
|
Pathogenic | - | Triosephosphate isomerase deficiency [MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868] | |
240_PHE | SER |
ClinVar chr12:6979519 |
rs587777440
|
Pathogenic | - | Triosephosphate isomerase deficiency [MONDO:MONDO:0014221,MedGen:C1860808,OMIM:615512,Orphanet:868] |