PDB ID 1KHH     CHAIN A
Protein name Guanidinoacetate methyltransferase
Uniprot Accession P10868
The number of similar proteins 9
The number of binding states 2
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1KHH (CHAIN: A)
1 P10868  
2 Monomeric state

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   KPVMERWETP   YMHSLAAAAA   SRGGRVLEVG   FGMAIAASRV   QQAPIKEHWI   50
51   IECNDGVFQR   LQNWALKQPH   KVVPLKGLWE   EVAPTLPDGH   FDGILYDTYP   100
101   LSEETWHTHQ   FNFIKTHAFR   LLKPGGILTY   CNLTSWGELM   KSKYTDITAM   150
151   FEETQVPALL   EAGFQRENIC   TEVMALVPPA   DCRYYAFPQM   ITPLVTKH   200

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
44_TRP ARG ClinVar
chr19:1401343 		rs886054247
Pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
44_TRP TER ClinVar
chr19:1401342 		-
Pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
49_MET LEU ClinVar
chr19:1401328 		rs104894694
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
50_HIS PRO ClinVar
chr19:1401324 		-
Likely pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
53_ALA PRO ClinVar
chr19:1401316 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
60_GLY ARG ClinVar
chr19:1401295 		rs1300512258
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
60_GLY GLU 8.3kJPN
chr19:1399937 		rs77168423
- 0.0277 -
67_GLY CYS ClinVar
chr19:1399917 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
73_ALA PRO ClinVar
chr19:1399899 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
74_ALA VAL ClinVar
chr19:1399895 		rs1441030187
Pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
75_SER LEU gnomAD
chr19:1399892 		rs150338273
- 0.000254256 -
77_VAL GLU ClinVar
chr19:1399886 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
78_GLN TER ClinVar
chr19:1399884 		-
Pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
78_GLN GLU 8.3kJPN
chr19:1399884 		-
- 0.0001 -
80_ALA VAL gnomAD
chr19:1399877 		rs751099274
- 0.00025471 -
80_ALA VAL 8.3kJPN
chr19:1399877 		rs751099274
- 0.0003 -
86_TRP TER ClinVar
chr19:1399858 		rs761115975
Likely pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
89_GLU LYS 8.3kJPN
chr19:1399851 		rs1569006974
- 0.0001 -
96_GLN TER ClinVar
chr19:1399830 		rs1215576338
Pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
97_ARG TRP 8.3kJPN
chr19:1399827 		rs765070826
- 0.0002 -
99_ARG TRP gnomAD
chr19:1399821 		rs552210450
- 0.000418436 -
101_TRP TER ClinVar
chr19:1399814 		rs2144638122
Pathogenic - Cerebral creatine deficiency syndrome [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
101_TRP TER ClinVar
chr19:1399813 		-
Pathogenic - Cerebral creatine deficiency syndrome [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
105_GLN TER ClinVar
chr19:1399803 		rs1369786965
Pathogenic - Cerebral creatine deficiency syndrome|not provided|Deficiency of guanidinoacetate methyltransferase|Abnormality of the nervous system [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MedGen:C3661900|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002320,MedGen:C0497552]
108_LYS LYS ClinVar
chr19:1399792 		rs80338735
Pathogenic - Deficiency of guanidinoacetate methyltransferase|not provided|Cerebral creatine deficiency syndrome|Inborn genetic diseases [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MedGen:C3661900|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MeSH:D030342,MedGen:C0950123]
109_VAL PHE ClinVar
chr19:1399586 		rs753198836
Likely pathogenic - not provided|Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MedGen:C3661900|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
110_ILE LEU 8.3kJPN
chr19:1399583 		rs201833033
- 0.0001 -
116_TRP TER ClinVar
chr19:1399564 		rs2144637546
Pathogenic/Likely pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
130_GLY ARG ClinVar
chr19:1399523 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
133_TYR TER ClinVar
chr19:1399184 		rs556829801
Pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
133_TYR TER ClinVar
chr19:1399184 		rs556829801
Pathogenic/Likely pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
134_ASP ASN ClinVar
chr19:1399183 		rs774144200
Pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
134_ASP TYR ClinVar
chr19:1399183 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
135_THR MET ClinVar
chr19:1399179 		rs374724533
Pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase|not provided [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MedGen:C3661900]
136_TYR TER ClinVar
chr19:1399175 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
139_SER TER ClinVar
chr19:1399167 		rs747656257
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
139_SER LEU 8.3kJPN
chr19:1399167 		rs747656257
- 0.0001 -
143_TRP TER ClinVar
chr19:1399154 		rs1600158570
Pathogenic - Cerebral creatine deficiency syndrome [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
146_HIS TYR ClinVar
chr19:1399147 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
147_GLN TER ClinVar
chr19:1399144 		-
Pathogenic - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
158_LEU PRO ClinVar
chr19:1399009 		rs2144636453
Likely pathogenic - not provided|Deficiency of guanidinoacetate methyltransferase [MedGen:C3661900|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
160_LYS TER ClinVar
chr19:1399004 		rs1057524499
Likely pathogenic - not provided|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MedGen:C3661900|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
164_VAL ILE 8.3kJPN
chr19:1398992 		rs1050914
- 0.0001 -
165_LEU PRO ClinVar
chr19:1398988 		rs1483148182
Likely pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
167_TYR SER ClinVar
chr19:1398982 		rs1131691644
Pathogenic/Likely pathogenic - not provided [MedGen:CN517202]
167_TYR TER ClinVar
chr19:1398981 		rs2082617068
Pathogenic - Cerebral creatine deficiency syndrome [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
168_CYS TYR ClinVar
chr19:1398979 		rs121909272
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
168_CYS ARG ClinVar
chr19:1398980 		rs1600158346
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome|not specified [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MedGen:CN169374]
173_TRP TER ClinVar
chr19:1398963 		rs370421531
Pathogenic - not provided|Deficiency of guanidinoacetate methyltransferase|Cerebral creatine deficiency syndrome [MedGen:C3661900|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172]
173_TRP TER ClinVar
chr19:1398964 		rs200444143
Pathogenic - not provided|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MedGen:C3661900|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
173_TRP ARG ClinVar
chr19:1398965 		rs891042971
Likely pathogenic - Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
173_TRP LEU 8.3kJPN
chr19:1398964 		rs200444143
- 0.0001 -
175_GLU TER ClinVar
chr19:1398959 		rs796052525
Likely pathogenic - not provided|Cerebral creatine deficiency syndrome|Deficiency of guanidinoacetate methyltransferase [MedGen:C3661900|MONDO:MONDO:0000456,MedGen:C5244016,OMIM:PS300352,Orphanet:79172|MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
187_MET ILE ClinVar
chr19:1398921 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
191_THR MET gnomAD
chr19:1397494 		rs141066224
- 0.000148771 -
191_THR MET 8.3kJPN
chr19:1397494 		rs141066224
- 0.0001 -
192_GLN TER ClinVar
chr19:1397492 		-
Pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
192_GLN ARG 8.3kJPN
chr19:1397491 		-
- 0.0002 -
193_VAL ALA gnomAD
chr19:1397488 		rs147739199
- 0.000786675 -
195_ALA VAL 8.3kJPN
chr19:1397482 		rs565109128
- 0.0001 -
195_ALA THR 8.3kJPN
chr19:1397483 		rs1355291180
- 0.0001 -
196_LEU PRO ClinVar
chr19:1397479 		-
Likely pathogenic - Deficiency of guanidinoacetate methyltransferase [MONDO:MONDO:0012999,MedGen:C0574080,OMIM:612736,Orphanet:382]
208_THR MET gnomAD
chr19:1397443 		rs17851582
- 0.0763464 -
218_ASP ASN gnomAD
chr19:1397414 		rs753228876
- 0.000145724 -
218_ASP ASN 8.3kJPN
chr19:1397414 		rs753228876
- 0.0001 -
220_ARG HIS 8.3kJPN
chr19:1397407 		rs766553422
- 0.0001 -
220_ARG CYS 8.3kJPN
chr19:1397408 		rs751894166
- 0.0001 -
223_ALA THR gnomAD
chr19:1397399 		rs141471799
- 0.000209498 -
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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.