PDB ID | 1EKV | CHAIN | A |
---|---|---|---|
Protein name | BRANCHED CHAIN AMINO ACID AMINOTRANSFERASE (MITOCHONDRIAL) | ||
Uniprot Accession | O15382 | ||
The number of similar proteins | 57 | ||
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 | |
---|---|---|---|---|---|---|---|
19_HIS | ARG |
gnomAD chr19:49309937 |
rs201148940
|
- | 0.00036628 | - | |
33_THR | ILE |
8.3kJPN chr19:49309895 |
-
|
- | 0.0001 | - | |
36_ASP | ASN |
gnomAD chr19:49309887 |
rs768560820
|
- | 0.00024257 | - | |
47_GLY | SER |
gnomAD chr19:49309854 |
rs142099967
|
- | 0.000341967 | - | |
52_ARG | TER |
8.3kJPN chr19:49309839 |
rs753025021
|
- | 0.0001 | - | |
85_ASP | ASN |
gnomAD chr19:49303521 |
rs144152530
|
- | 0.000171751 | - | |
99_ARG | GLN |
8.3kJPN chr19:49303478 |
rs1234657138
|
- | 0.0001 | - | |
140_LEU | ILE |
gnomAD chr19:49303270 |
rs377598825
|
- | 0.000194114 | - | |
143_ARG | GLN | VAR_084533 |
rs749866079
|
LP/P | - | Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850] | |
143_ARG | GLN |
ClinVar chr19:49303260 |
rs749866079
|
Pathogenic | - | Hypervalinemia and hyperleucine-isoleucinemia [MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850] | |
146_LEU | HIS |
8.3kJPN chr19:49303251 |
-
|
- | 0.0001 | - | |
147_ILE | THR |
8.3kJPN chr19:49303248 |
-
|
- | 0.0001 | - | |
159_THR | ARG |
gnomAD chr19:49303070 |
rs11548193
|
- | 0.142656 | - | |
173_TYR | TER |
ClinVar chr19:49303027 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
174_PHE | LEU |
8.3kJPN chr19:49303026 |
-
|
- | 0.0002 | - | |
188_PRO | ARG |
gnomAD chr19:49302983 |
rs150646107
|
- | 0.000299974 | - | |
232_ASP | ASN |
8.3kJPN chr19:49300511 |
rs147444595
|
- | 0.0001 | - | |
233_HIS | TYR |
8.3kJPN chr19:49300508 |
rs764489541
|
- | 0.0005 | - | |
237_GLU | LYS | VAR_084534 |
rs767653663
|
LP/P | - | Hypervalinemia and hyperleucine-isoleucinemia (HVLI) [MIM:618850] | |
237_GLU | LYS |
ClinVar chr19:49300496 |
rs767653663
|
Pathogenic | - | Hypervalinemia and hyperleucine-isoleucinemia [MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850] | |
285_ARG | TRP |
8.3kJPN chr19:49299966 |
rs1213912704
|
- | 0.0001 | - | |
291_ILE | VAL |
8.3kJPN chr19:49299948 |
-
|
- | 0.0001 | - | |
292_THR | SER |
gnomAD chr19:49299944 |
rs200604464
|
- | 0.000116243 | - | |
295_GLN | HIS |
8.3kJPN chr19:49299934 |
-
|
- | 0.0001 | - | |
301_GLU | ASP |
8.3kJPN chr19:49299916 |
-
|
- | 0.0001 | - | |
304_ARG | CYS |
8.3kJPN chr19:49299909 |
rs756358618
|
- | 0.0003 | - | |
306_ARG | TRP |
gnomAD chr19:49299903 |
rs149621078
|
- | 0.000619108 | - | |
306_ARG | TRP |
8.3kJPN chr19:49299903 |
rs149621078
|
- | 0.0001 | - | |
308_VAL | ALA |
gnomAD chr19:49299896 |
rs368301773
|
- | 0.000167616 | - | |
308_VAL | ALA |
8.3kJPN chr19:49299896 |
rs368301773
|
- | 0.0004 | - | |
328_ARG | GLY |
8.3kJPN chr19:49299837 |
rs1194818729
|
- | 0.0004 | - | |
344_ARG | CYS |
gnomAD chr19:49299714 |
rs199999090
|
- | 0.000187017 | - | |
347_LYS | GLU |
gnomAD chr19:49299705 |
rs140856269
|
- | 0.000521132 | - | |
356_ILE | PHE |
gnomAD chr19:49298715 |
rs145231743
|
- | 0.000322956 | - | |
360_GLU | GLY |
8.3kJPN chr19:49298702 |
rs1329872945
|
- | 0.0001 | - |