PDB ID | 2IBY | CHAIN | A |
---|---|---|---|
Protein name | Acetyl-CoA acetyltransferase | ||
Uniprot Accession | P24752 | ||
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 | |
---|---|---|---|---|---|---|---|
44_ILE | THR |
ClinVar chr11:108004557 |
rs2135334430
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
55_PHE | ILE |
ClinVar chr11:108004589 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
67_LEU | PHE |
8.3kJPN chr11:108004625 |
-
|
- | 0.0001 | - | |
68_GLY | VAL |
ClinVar chr11:108004629 |
rs794727475
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
73_GLN | PRO |
ClinVar chr11:108004644 |
rs779758622
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
73_GLN | TER |
ClinVar chr11:108004643 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
85_GLU | TER |
ClinVar chr11:108004962 |
rs748425041
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
88_GLU | ALA |
ClinVar chr11:108004972 |
rs1565288701
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
92_GLY | SER |
ClinVar chr11:108004983 |
rs1591362402
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
93_ASN | SER | VAR_007498 |
rs120074145
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
93_ASN | SER |
ClinVar chr11:108004987 |
rs120074145
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
96_GLN | TER |
ClinVar chr11:108004995 |
rs1233969418
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
101_GLN | TER |
ClinVar chr11:108005010 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
106_GLN | TER |
ClinVar chr11:108005025 |
rs2135336400
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
124_LYS | GLU |
ClinVar chr11:108005904 |
rs1591363715
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
124_LYS | ARG |
ClinVar chr11:108005905 |
rs1037467160
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
126_CYS | SER |
ClinVar chr11:108005911 |
rs1278227329
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900] | |
127_ALA | VAL |
ClinVar chr11:108005914 |
rs1591363760
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
132_ALA | GLY |
ClinVar chr11:108005929 |
rs1591363786
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
134_MET | VAL |
8.3kJPN chr11:108005934 |
-
|
- | 0.0001 | - | |
140_LEU | ARG |
ClinVar chr11:108005953 |
-
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
144_HIS | PRO |
ClinVar chr11:108005965 |
rs1025180934
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
144_HIS | PRO |
8.3kJPN chr11:108005965 |
rs1025180934
|
- | 0.0002 | - | |
145_GLN | TER |
ClinVar chr11:108005967 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
150_ALA | VAL |
8.3kJPN chr11:108009638 |
rs149522535
|
- | 0.0001 | - | |
152_GLY | ALA | VAR_007499 |
rs762991875
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
152_GLY | ALA |
ClinVar chr11:108009644 |
rs762991875
|
Pathogenic/Likely pathogenic | - | not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
158_ASN | ASP | VAR_007500 |
rs148639841
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
158_ASN | ASP |
ClinVar chr11:108009661 |
rs148639841
|
Pathogenic/Likely pathogenic | - | not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
158_ASN | SER |
ClinVar chr11:108009662 |
rs199524907
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900] | |
158_ASN | SER |
gnomAD chr11:108009662 |
rs199524907
|
- | 0.000314238 | - | |
159_VAL | ALA |
8.3kJPN chr11:108009665 |
-
|
- | 0.0001 | - | |
161_TYR | TER |
ClinVar chr11:108009672 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
168_THR | ILE |
8.3kJPN chr11:108009692 |
rs1565291981
|
- | 0.0002 | - | |
174_LYS | GLU |
8.3kJPN chr11:108009709 |
rs757956611
|
- | 0.0001 | - | |
183_GLY | ARG | VAR_007501 |
rs120074141
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
183_GLY | ARG |
ClinVar chr11:108009736 |
rs120074141
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
186_ASP | TYR |
ClinVar chr11:108009745 |
rs1591367592
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
193_MET | THR |
ClinVar chr11:108009767 |
rs541517496
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
193_MET | ARG |
ClinVar chr11:108009767 |
rs541517496
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
203_LYS | THR |
8.3kJPN chr11:108010820 |
-
|
- | 0.0001 | - | |
208_ARG | GLN |
ClinVar chr11:108010835 |
rs370720208
|
Pathogenic/Likely pathogenic | - | not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
208_ARG | TER |
ClinVar chr11:108010834 |
rs532190594
|
Pathogenic | - | not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
210_GLU | TER |
ClinVar chr11:108010840 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
213_ALA | THR |
8.3kJPN chr11:108010849 |
rs772087249
|
- | 0.0001 | - | |
214_TYR | TER |
ClinVar chr11:108010854 |
rs761282960
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
218_SER | PHE |
ClinVar chr11:108010865 |
rs879255505
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
219_TYR | HIS |
ClinVar chr11:108010867 |
rs1437567292
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
225_ALA | GLU |
ClinVar chr11:108010886 |
rs1385465985
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
245_GLN | TER |
ClinVar chr11:108012334 |
rs2134768525
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
252_GLU | LYS |
8.3kJPN chr11:108012355 |
-
|
- | 0.0001 | - | |
253_ASP | ASN |
ClinVar chr11:108012358 |
rs869312946
|
Pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
253_ASP | GLU |
ClinVar chr11:108012360 |
rs983216159
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
255_GLU | TER |
ClinVar chr11:108012364 |
rs2134768688
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
258_ARG | CYS |
gnomAD chr11:108012373 |
rs753816946
|
- | 0.000374586 | - | |
258_ARG | CYS |
8.3kJPN chr11:108012373 |
rs753816946
|
- | 0.0016 | - | |
263_LYS | TER |
ClinVar chr11:108012388 |
rs2134768866
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
272_GLN | TER |
ClinVar chr11:108012415 |
rs120074144
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase|not provided [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|MedGen:C3661900] | |
272_GLN | HIS |
gnomAD chr11:108012417 |
rs139120939
|
- | 0.000171584 | - | |
282_ASN | HIS |
ClinVar chr11:108013181 |
rs750195919
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
290_ALA | SER |
8.3kJPN chr11:108013205 |
-
|
- | 0.0001 | - | |
297_THR | MET | VAR_007502 |
rs886041122
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
297_THR | MET |
ClinVar chr11:108013227 |
rs886041122
|
Pathogenic/Likely pathogenic | - | not provided|Deficiency of acetyl-CoA acetyltransferase|ACAT1-related condition [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|] | |
297_THR | LYS |
ClinVar chr11:108013227 |
rs886041122
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
301_ALA | PRO | VAR_007503 |
rs1420321267
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
301_ALA | PRO |
ClinVar chr11:108013238 |
rs1420321267
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
305_ASN | SER |
8.3kJPN chr11:108013251 |
rs562043215
|
- | 0.0002 | - | |
309_LEU | ARG |
8.3kJPN chr11:108013263 |
-
|
- | 0.0001 | - | |
312_ILE | THR | VAR_007504 |
rs120074146
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
312_ILE | THR |
ClinVar chr11:108013272 |
rs120074146
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
312_ILE | THR |
8.3kJPN chr11:108013272 |
rs120074146
|
- | 0.0001 | - | |
317_ASP | ASN |
ClinVar chr11:108014718 |
rs780486838
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
317_ASP | ASP |
ClinVar chr11:108014720 |
rs747714452
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
327_ILE | VAL |
gnomAD chr11:108014748 |
rs150038447
|
- | 0.00024267 | - | |
333_ALA | PRO | VAR_007505 |
rs120074147
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
333_ALA | PRO |
ClinVar chr11:108014766 |
rs120074147
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
333_ALA | PRO |
8.3kJPN chr11:108014766 |
rs120074147
|
- | 0.0003 | - | |
347_ILE | THR |
ClinVar chr11:108016963 |
rs1338023969
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
350_TRP | TER |
ClinVar chr11:108016972 |
rs1367121673
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
353_ASN | LYS |
ClinVar chr11:108016982 |
rs1591374629
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
353_ASN | LYS |
ClinVar chr11:108016982 |
rs1591374629
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
354_GLU | VAL |
ClinVar chr11:108016984 |
rs1591374632
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
367_LEU | TER |
ClinVar chr11:108017023 |
rs2134791556
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
368_GLU | ASP |
8.3kJPN chr11:108017027 |
-
|
- | 0.0001 | - | |
372_GLN | TER |
ClinVar chr11:108017037 |
rs2134791667
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
373_LYS | TER |
ClinVar chr11:108017040 |
rs2134791703
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
375_ASN | SER |
ClinVar chr11:108017047 |
rs373771053
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase|ACAT1-related condition [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134|] | |
375_ASN | SER |
8.3kJPN chr11:108017047 |
rs373771053
|
- | 0.0001 | - | |
379_GLY | VAL | VAR_007506 |
rs120074143
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
379_GLY | VAL |
ClinVar chr11:108017059 |
rs120074143
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
380_ALA | THR | VAR_007507 |
rs120074140
|
LP/P | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] | |
380_ALA | THR |
ClinVar chr11:108017061 |
rs120074140
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
381_VAL | ALA |
8.3kJPN chr11:108017065 |
rs768448235
|
- | 0.0001 | - | |
387_ILE | THR |
ClinVar chr11:108017083 |
rs748303093
|
Pathogenic/Likely pathogenic | - | not provided|Deficiency of acetyl-CoA acetyltransferase [MedGen:C3661900|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
387_ILE | VAL |
ClinVar chr11:108017082 |
-
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
388_GLY | GLU |
ClinVar chr11:108017086 |
rs773491386
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
389_MET | ILE |
ClinVar chr11:108018000 |
rs377295639
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
390_SER | PRO |
ClinVar chr11:108018001 |
rs1184088336
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
390_SER | PRO |
8.3kJPN chr11:108018001 |
rs1184088336
|
- | 0.0001 | - | |
397_HIS | ASP |
ClinVar chr11:108018022 |
rs746332363
|
Pathogenic/Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
397_HIS | ARG |
ClinVar chr11:108018023 |
rs2134797745
|
Likely pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
397_HIS | ASN |
ClinVar chr11:108018022 |
rs746332363
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
404_GLN | TER |
ClinVar chr11:108018043 |
-
|
Pathogenic | - | Deficiency of acetyl-CoA acetyltransferase [MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750,Orphanet:134] | |
406_GLU | GLY |
gnomAD chr11:108018050 |
rs147872303
|
- | 0.000318228 | - |