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

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state
Binding partners
3JDW (CHAIN: A)
1 Monomeric state

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Only interaction residues
#binding
partners
  0

Sequence information

1   MLRVRCLRGG   SRGAEAVHYI   GSRLGRTLTG   WVQRTFQSTQ   AATASSRNSC   50
51   AADDKATEPL   PKDCPVSSYN   EWDPLEEVIV   GRAENACVPP   FTIEVKANTY   100
101   EKYWPFYQKQ   GGHYFPKDHL   KKAVAEIEEM   CNILKTEGVT   VRRPDPIDWS   150
151   LKYKTPDFES   TGLYSAMPRD   ILIVVGNEII   EAPMAWRSRF   FEYRAYRSII   200
201   KDYFHRGAKW   TTAPKPTMAD   ELYNQDYPIH   SVEDRHKLAA   QGKFVTTEFE   250
251   PCFDAADFIR   AGRDIFAQRS   QVTNYLGIEW   MRRHLAPDYR   VHIISFKDPN   300
301   PMHIDATFNI   IGPGIVLSNP   DRPCHQIDLF   KKAGWTIITP   PTPIIPDDHP   350
351   LWMSSKWLSM   NVLMLDEKRV   MVDANEVPIQ   KMFEKLGITT   IKVNIRNANS   400
401   LGGGFHCWTC   DVRRRGTLQS   YLD       450

Variants

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 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.