PDB ID 2IDX     CHAIN A
Protein name Cob(I)yrinic acid a,c-diamide adenosyltransferase
Uniprot Accession Q96EY8
The number of similar proteins 13
The number of binding states 3
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2IDX (CHAIN: A)
1 Q96EY8   Q96EY8  
2 Monomeric state
3 Q96EY8  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MPKIYTKTGD   KGFSSTFTGE   RRPKDDQVFE   AVGTTDELSS   AIGFALELVT   50
51   EKGHTFAEEL   QKIQCTLQDV   GSALATPCSS   AREAHLKYTT   FKAGPILELE   100
101   QWIDKYTSQL   PPLTAFILPS   GGKISSALHF   CRAVCRRAER   RVVPLVQMGE   150
151   TDANVAKFLN   RLSDYLFTLA   RYAAMKEGNQ   EKIYMKNDPS   AESEGL   200

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
96_ILE THR VAR_023471 rs864309509
LP/P - Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
96_ILE THR ClinVar
chr12:110006578 		rs864309509
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
97_GLY GLU ClinVar
chr12:110006575 		rs864309511
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
109_THR LYS 8.3kJPN
chr12:110002946 		-
- 0.0001 -
112_GLU TER ClinVar
chr12:110002938 		-
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
119_CYS TER ClinVar
chr12:109999649 		-
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
127_ALA ASP ClinVar
chr12:109999626 		rs778169806
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
152_GLU TER ClinVar
chr12:109999290 		rs557884699
Pathogenic/Likely pathogenic - Methylmalonic aciduria, cblB type|Methylmalonic acidemia [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|Human Phenotype Ontology:HP:0002912,Human Phenotype Ontology:HP:0003123,Human Phenotype Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583]
154_GLU ASP ClinVar
chr12:109999282 		rs1392513631
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
154_GLU TER ClinVar
chr12:109999284 		rs2136199292
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
155_GLN TER ClinVar
chr12:109999281 		-
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
156_TRP TER ClinVar
chr12:109999276 		rs1884201610
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
156_TRP TER ClinVar
chr12:109999277 		rs2136199270
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
163_GLN TER ClinVar
chr12:109999257 		rs2136199221
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
168_THR ALA 8.3kJPN
chr12:109999242 		rs1191240743
- 0.0012 -
175_GLY TER ClinVar
chr12:109998906 		rs758790126
Pathogenic - Methylmalonic aciduria, cblB type|MMAB-related condition [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|]
180_SER TER ClinVar
chr12:109998890 		-
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
180_SER LEU 8.3kJPN
chr12:109998890 		rs368584846
- 0.0001 -
185_CYS PHE 8.3kJPN
chr12:109998875 		-
- 0.0001 -
186_ARG TRP VAR_017205 rs28941784
LP/P - Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
186_ARG TRP ClinVar
chr12:109998873 		rs28941784
Pathogenic/Likely pathogenic - Methylmalonic aciduria, cblB type|not provided|Methylmalonic acidemia|Inborn genetic diseases|MMAB-related condition [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|MedGen:C3661900|Human Phenotype Ontology:HP:0002912,Human Phenotype Ontology:HP:0003123,Human Phenotype Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583|MeSH:D030342,MedGen:C0950123|]
186_ARG PRO ClinVar
chr12:109998872 		-
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
186_ARG TRP gnomAD
chr12:109998873 		rs28941784
- 0.000140415 -
188_VAL GLY ClinVar
chr12:109998866 		rs869320654
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
188_VAL MET 8.3kJPN
chr12:109998867 		rs768176676
- 0.0001 -
190_ARG CYS ClinVar
chr12:109998861 		rs398124434
Pathogenic/Likely pathogenic - Methylmalonic aciduria, cblB type|not provided [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|MedGen:C3661900]
190_ARG HIS ClinVar
chr12:109998860 		rs756414548
Pathogenic/Likely pathogenic - not provided|Methylmalonic aciduria, cblB type|Methylmalonic acidemia [MedGen:C3661900|MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|Human Phenotype Ontology:HP:0002912,Human Phenotype Ontology:HP:0003123,Human Phenotype Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583]
190_ARG GLY ClinVar
chr12:109998861 		rs398124434
Pathogenic - not provided [MedGen:CN517202]
190_ARG PRO 8.3kJPN
chr12:109998860 		-
- 0.0001 -
191_ARG TRP VAR_017206 rs376128990
LP/P - Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
191_ARG TRP ClinVar
chr12:109998858 		rs376128990
Pathogenic - Methylmalonic aciduria, cblB type|not provided|Inborn genetic diseases [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
191_ARG GLN ClinVar
chr12:109998857 		rs746219370
Pathogenic - Methylmalonic aciduria, cblB type|not provided|Inborn genetic diseases [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|MedGen:C3661900|MeSH:D030342,MedGen:C0950123]
191_ARG PRO ClinVar
chr12:109998857 		-
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
191_ARG GLY ClinVar
chr12:109998858 		-
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
193_GLU LYS VAR_017207 rs749758687
LP/P - Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
193_GLU GLN ClinVar
chr12:109998852 		rs749758687
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
194_ARG GLY ClinVar
chr12:109998849 		rs2136198139
Likely pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
207_ALA VAL gnomAD
chr12:109996925 		rs61739388
- 0.000377863 -
209_VAL MET 8.3kJPN
chr12:109996920 		rs200903284
- 0.0001 -
213_LEU TER ClinVar
chr12:109996907 		rs2136195113
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
217_SER ILE ClinVar
chr12:109994936 		rs2136192612
Pathogenic - Methylmalonic aciduria, cblB type [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311]
222_THR MET gnomAD
chr12:109994921 		rs142070439
- 0.000186934 -
234_GLN TER ClinVar
chr12:109994886 		rs369296618
Pathogenic - Methylmalonic aciduria, cblB type|not provided|Methylmalonic acidemia [MONDO:MONDO:0009614,MedGen:C1855102,OMIM:251110,Orphanet:28,Orphanet:79311|MedGen:C3661900|Human Phenotype Ontology:HP:0002912,Human Phenotype Ontology:HP:0003123,Human Phenotype Ontology:HP:0008295,MONDO:MONDO:0002012,MeSH:C537358,MedGen:C0268583]
239_MET LYS VAR_017208 rs9593
LB/B - -
239_MET LYS gnomAD
chr12:109994870 		rs9593
- 0.501734 -
239_MET LYS 8.3kJPN
chr12:109994870 		rs9593
- 0.2919 -
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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

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