PDB ID | 1M3E | CHAIN | A |
---|---|---|---|
Protein name | SUCCINYL-COA:3-KETOACID-COENZYME A TRANSFERASE | ||
Uniprot Accession | Q29551 | ||
The number of similar proteins | 18 | ||
The number of binding states | 1 | ||
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 | |
---|---|---|---|---|---|---|---|
6_ASP | HIS |
8.3kJPN chr5:41862798 |
rs199713007
|
- | 0.0002 | - | |
17_GLY | ASP |
8.3kJPN chr5:41862764 |
-
|
- | 0.0001 | - | |
19_THR | MET |
gnomAD chr5:41862758 |
rs75134564
|
- | 0.0013207 | - | |
19_THR | MET |
8.3kJPN chr5:41862758 |
rs75134564
|
- | 0.0048 | - | |
23_GLY | VAL |
8.3kJPN chr5:41862746 |
-
|
- | 0.0001 | - | |
26_GLY | ARG |
ClinVar chr5:41861501 |
rs1579903197
|
Likely pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
55_VAL | ALA |
8.3kJPN chr5:41853654 |
-
|
- | 0.0001 | - | |
85_ARG | TER |
ClinVar chr5:41853565 |
rs1579884900
|
Likely pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
103_ALA | PRO |
ClinVar chr5:41850272 |
rs1561128268
|
Likely pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
178_ARG | TER |
ClinVar chr5:41842799 |
rs758813974
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
178_ARG | LEU |
gnomAD chr5:41842798 |
rs142383658
|
- | 0.000776645 | - | |
180_GLY | GLU |
ClinVar chr5:41842792 |
rs121909302
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
229_ARG | HIS |
ClinVar chr5:41807470 |
rs2112279054
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
242_ARG | CYS |
8.3kJPN chr5:41805783 |
rs1014048269
|
- | 0.0002 | - | |
244_SER | TER |
ClinVar chr5:41805776 |
rs121909299
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
246_ARG | TRP |
8.3kJPN chr5:41805771 |
rs750604881
|
- | 0.0001 | - | |
271_ALA | THR |
8.3kJPN chr5:41805696 |
rs748055831
|
- | 0.0007 | - | |
285_GLY | GLU |
ClinVar chr5:41803250 |
rs121909301
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency|not provided [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832|MedGen:C3661900] | |
310_GLY | CYS |
8.3kJPN chr5:41803176 |
rs1265872256
|
- | 0.0001 | - | |
356_ASP | ASN |
gnomAD chr5:41794170 |
rs544345952
|
- | 0.000676052 | - | |
356_ASP | ASN |
8.3kJPN chr5:41794170 |
rs544345952
|
- | 0.0001 | - | |
396_THR | ASN |
8.3kJPN chr5:41762247 |
-
|
- | 0.0001 | - | |
414_MET | THR |
8.3kJPN chr5:41749690 |
rs755255464
|
- | 0.0002 | - | |
414_MET | LEU |
8.3kJPN chr5:41749691 |
-
|
- | 0.0001 | - | |
415_GLU | TER |
8.3kJPN chr5:41749688 |
-
|
- | 0.0001 | - | |
417_CYS | PHE |
ClinVar chr5:41749681 |
rs121909300
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
418_THR | ILE |
ClinVar chr5:41749678 |
rs369643387
|
Pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832] | |
418_THR | ALA |
8.3kJPN chr5:41749679 |
-
|
- | 0.0001 | - | |
429_ARG | CYS |
ClinVar chr5:41749646 |
rs1327401976
|
Likely pathogenic | - | Succinyl-CoA acetoacetate transferase deficiency|not provided [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832|MedGen:C3661900] | |
453_GLY | ASP |
gnomAD chr5:41739538 |
rs758232097
|
- | 0.000178953 | - | |
468_ALA | VAL |
8.3kJPN chr5:41739493 |
rs745896456
|
- | 0.0002 | - |