PDB ID | 1IVR | CHAIN | A |
---|---|---|---|
Protein name | ASPARTATE AMINOTRANSFERASE | ||
Uniprot Accession | P00508 | ||
The number of similar proteins | 23 | ||
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 | |
---|---|---|---|---|---|---|---|
5_THR | SER |
8.3kJPN chr16:58757795 |
-
|
- | 0.0001 | - | |
21_ALA | GLY |
8.3kJPN chr16:58757747 |
rs771477611
|
- | 0.0002 | - | |
24_ARG | TRP |
gnomAD chr16:58757739 |
rs147242485
|
- | 0.000155184 | - | |
36_GLY | CYS |
8.3kJPN chr16:58757703 |
-
|
- | 0.0001 | - | |
39_ARG | TRP |
gnomAD chr16:58757694 |
rs557150117
|
- | 0.000115344 | - | |
47_VAL | ILE |
gnomAD chr16:58757670 |
rs144716246
|
- | 0.000278485 | - | |
47_VAL | ILE |
8.3kJPN chr16:58757670 |
rs144716246
|
- | 0.0002 | - | |
49_PRO | LEU |
gnomAD chr16:58757663 |
rs765537389
|
- | 0.000103464 | - | |
60_ALA | SER |
gnomAD chr16:58756164 |
rs137905758
|
- | 0.0001193 | - | |
60_ALA | THR |
8.3kJPN chr16:58756164 |
-
|
- | 0.0001 | - | |
62_ASN | LYS |
8.3kJPN chr16:58756156 |
-
|
- | 0.0001 | - | |
90_GLU | LYS |
8.3kJPN chr16:58756074 |
rs756305221
|
- | 0.0001 | - | |
94_SER | ARG |
8.3kJPN chr16:58756060 |
-
|
- | 0.0001 | - | |
125_ASP | ASN |
gnomAD chr16:58752568 |
rs78784246
|
- | 0.00401107 | - | |
148_GLN | LEU |
8.3kJPN chr16:58752498 |
-
|
- | 0.0002 | - | |
151_ARG | GLN |
8.3kJPN chr16:58752489 |
rs773502230
|
- | 0.0004 | - | |
151_ARG | TRP |
8.3kJPN chr16:58752490 |
rs373294477
|
- | 0.0001 | - | |
155_PRO | LEU |
8.3kJPN chr16:58752477 |
rs772294547
|
- | 0.0002 | - | |
159_GLY | SER |
gnomAD chr16:58752466 |
rs11076256
|
- | 0.061211 | - | |
159_GLY | SER |
8.3kJPN chr16:58752466 |
rs11076256
|
- | 0.0029 | - | |
163_THR | ARG |
8.3kJPN chr16:58752453 |
-
|
- | 0.0001 | - | |
165_ALA | THR |
gnomAD chr16:58752448 |
rs201083152
|
- | 0.000103914 | - | |
165_ALA | THR |
8.3kJPN chr16:58752448 |
rs201083152
|
- | 0.0003 | - | |
168_ASP | ASN |
gnomAD chr16:58752439 |
rs149988435
|
- | 0.000826358 | - | |
172_ILE | THR |
8.3kJPN chr16:58752200 |
-
|
- | 0.0001 | - | |
193_ARG | HIS |
gnomAD chr16:58752137 |
rs139235307
|
- | 0.0131535 | - | |
211_ALA | VAL |
8.3kJPN chr16:58750701 |
rs754471368
|
- | 0.0001 | - | |
217_TYR | HIS |
8.3kJPN chr16:58750684 |
-
|
- | 0.0001 | - | |
233_ARG | GLY |
ClinVar chr16:58750636 |
rs752927520
|
Likely pathogenic | - | Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 82 [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934|MONDO:MONDO:0032880,MedGen:C5231473,OMIM:618721] | |
237_GLU | GLN |
8.3kJPN chr16:58750624 |
rs368352559
|
- | 0.0001 | - | |
239_GLY | ASP |
8.3kJPN chr16:58750617 |
rs777180671
|
- | 0.0002 | - | |
296_ARG | TRP |
8.3kJPN chr16:58749964 |
rs1406591910
|
- | 0.0001 | - | |
308_ARG | GLY |
ClinVar chr16:58749928 |
rs1247507359
|
Likely pathogenic | - | Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 82 [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934|MONDO:MONDO:0032880,MedGen:C5231473,OMIM:618721] | |
317_VAL | GLY |
gnomAD chr16:58743454 |
rs30842
|
- | 0.711896 | - | |
317_VAL | GLY |
8.3kJPN chr16:58743454 |
rs30842
|
- | 0.617 | - | |
321_ARG | CYS |
8.3kJPN chr16:58743443 |
rs1465507115
|
- | 0.0001 | - | |
326_ARG | GLN |
8.3kJPN chr16:58743427 |
rs752127201
|
- | 0.0001 | - | |
328_GLN | GLU |
gnomAD chr16:58743422 |
rs112943773
|
- | 0.000115346 | - | |
334_LYS | ARG |
8.3kJPN chr16:58743403 |
-
|
- | 0.0001 | - | |
335_LYS | GLU |
gnomAD chr16:58743401 |
rs150122367
|
- | 0.000767499 | - | |
335_LYS | GLU |
8.3kJPN chr16:58743401 |
rs150122367
|
- | 0.007 | - | |
337_GLY | VAL |
ClinVar chr16:58743394 |
rs1597696047
|
Likely pathogenic | - | Early infantile epileptic encephalopathy with suppression bursts|Developmental and epileptic encephalopathy, 82 [MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350,Orphanet:1934|MONDO:MONDO:0032880,MedGen:C5231473,OMIM:618721] | |
364_ARG | GLN |
gnomAD chr16:58742190 |
rs151225545
|
- | 0.000207495 | - | |
364_ARG | TRP |
gnomAD chr16:58742191 |
rs141302038
|
- | 0.000291615 | - | |
376_ASP | GLY |
8.3kJPN chr16:58742154 |
-
|
- | 0.0001 | - |