PDB ID | 3JDW | CHAIN | A |
---|---|---|---|
Protein name | L-ARGININE:GLYCINE AMIDINOTRANSFERASE | ||
Uniprot Accession | P50440 | ||
The number of similar proteins | 11 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3JDW (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
69_TYR | TER |
ClinVar chr15:45668880 |
-
|
Pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
72_TRP | TER |
ClinVar chr15:45668871 |
rs1566842679
|
Likely pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
87_CYS | ARG |
ClinVar chr15:45668828 |
rs2140657166
|
Likely pathogenic | - | Fanconi renotubular syndrome 1 [MONDO:MONDO:0024525,MedGen:C4551503,OMIM:134600] | |
93_ILE | VAL | VAR_076484 |
rs34991226
|
US | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
102_LYS | ASN | VAR_076485 |
rs376335787
|
US | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
105_PRO | LEU | VAR_076486 |
rs147804855
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
110_GLN | HIS | VAR_020305 |
rs1288775
|
LB/B | - | - | |
110_GLN | HIS |
gnomAD chr15:45661678 |
rs1288775
|
- | 0.421468 | - | |
110_GLN | HIS |
8.3kJPN chr15:45661678 |
rs1288775
|
- | 0.8654 | - | |
134_LEU | TER |
ClinVar chr15:45661607 |
rs2140646735
|
Pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
136_THR | MET |
gnomAD chr15:45661601 |
rs148564534
|
- | 0.00036994 | - | |
136_THR | MET |
8.3kJPN chr15:45661601 |
rs148564534
|
- | 0.0001 | - | |
149_TRP | TER |
ClinVar chr15:45661562 |
rs80338737
|
Pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
169_ARG | TER |
ClinVar chr15:45660438 |
rs397514708
|
Pathogenic | - | Arginine:glycine amidinotransferase deficiency|Fanconi renotubular syndrome 1 [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704|MONDO:MONDO:0024525,MedGen:C4551503,OMIM:134600]; Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
181_GLU | LYS | VAR_076487 |
rs376982466
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
183_PRO | SER |
8.3kJPN chr15:45660396 |
rs1392379976
|
- | 0.0001 | - | |
184_MET | ILE |
8.3kJPN chr15:45660391 |
-
|
- | 0.0001 | - | |
185_ALA | PRO | VAR_076488 |
-
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
185_ALA | PRO |
ClinVar chr15:45660390 |
rs2140644920
|
Likely pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
189_ARG | CYS | VAR_076489 |
rs377578020
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
189_ARG | HIS |
ClinVar chr15:45660377 |
rs2140644856
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
194_ARG | TER |
ClinVar chr15:45660363 |
-
|
Pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
199_ILE | VAL |
8.3kJPN chr15:45660348 |
-
|
- | 0.0001 | - | |
203_TYR | SER | VAR_069816 |
rs397514709
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
203_TYR | SER |
ClinVar chr15:45660335 |
rs397514709
|
Likely pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
206_ARG | HIS |
8.3kJPN chr15:45660326 |
rs565509522
|
- | 0.0002 | - | |
208_ALA | THR | VAR_076490 |
rs374059924
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
210_TRP | TER |
ClinVar chr15:45660314 |
-
|
Pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
231_SER | CYS | VAR_076491 |
rs202225656
|
LB/B | - | - | |
234_ASP | GLY | VAR_076492 |
rs146057680
|
LB/B | - | - | |
234_ASP | GLY |
gnomAD chr15:45658681 |
rs146057680
|
- | 0.000190976 | - | |
260_ARG | TER |
ClinVar chr15:45658604 |
rs775933965
|
Likely pathogenic | - | not provided|Arginine:glycine amidinotransferase deficiency [MedGen:C3661900|MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
282_ARG | HIS | VAR_076493 |
rs371447931
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
293_ILE | THR |
8.3kJPN chr15:45658344 |
-
|
- | 0.0001 | - | |
320_PRO | SER | VAR_084378 |
rs1889443535
|
LP/P | - | Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] | |
320_PRO | SER |
ClinVar chr15:45658264 |
rs1889443535
|
Pathogenic | - | Fanconi renotubular syndrome 1 [MONDO:MONDO:0024525,MedGen:C4551503,OMIM:134600] | |
322_ARG | PRO |
ClinVar chr15:45658257 |
rs1325460408
|
Likely pathogenic | - | Fanconi renotubular syndrome 1 [MONDO:MONDO:0024525,MedGen:C4551503,OMIM:134600] | |
329_LEU | VAL | VAR_076494 |
rs373802463
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
336_THR | ALA | VAR_084379 |
rs1889422994
|
LP/P | - | Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] | |
336_THR | ILE | VAR_084380 |
-
|
LP/P | - | Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] | |
337_ILE | VAL |
8.3kJPN chr15:45657028 |
rs558560751
|
- | 0.0004 | - | |
341_PRO | LEU | VAR_084381 |
rs1889422661
|
LP/P | - | Fanconi renotubular syndrome 1 (FRTS1) [MIM:134600] | |
344_ILE | VAL |
8.3kJPN chr15:45657007 |
rs747608698
|
- | 0.0004 | - | |
346_PRO | LEU | VAR_076495 |
rs142814307
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
413_ARG | GLN | VAR_071789 |
rs1461653218
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
413_ARG | TRP | VAR_071790 |
rs1244824806
|
LP/P | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
413_ARG | TRP |
ClinVar chr15:45654342 |
rs1244824806
|
Likely pathogenic | - | not provided|Arginine:glycine amidinotransferase deficiency [MedGen:C3661900|MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
413_ARG | GLN |
ClinVar chr15:45654341 |
-
|
Likely pathogenic | - | Arginine:glycine amidinotransferase deficiency [MONDO:MONDO:0012996,MedGen:C2675179,OMIM:612718,Orphanet:35704] | |
415_ARG | GLN | VAR_076496 |
rs374592247
|
US | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] | |
415_ARG | GLN |
gnomAD chr15:45654335 |
rs374592247
|
- | 0.000175612 | - |