PDB ID 2CZ2     CHAIN A
Protein name Maleylacetoacetate isomerase
Uniprot Accession Q9WVL0
The number of similar proteins 3
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
2CZ2 (CHAIN: A)
1 Monomeric state
2 Q9WVL0  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   GSSGSSGXQA   GKPILYSYFR   SSCSWRVRIA   LALKGIDYEI   VPINLIKDGG   50
51   QQFTEEFQTL   NPXKQVPALK   IDGITIVQSL   AIXEYLEETR   PIPRLLPQDP   100
101   QKRAIVRXIS   DLIASGIQPL   QNLSVLKQVG   QENQXQWAQK   VITSGFNALE   150
151   KILQSTAGKY   CVGDEVSXAD   VCLVPQVANA   ERFKVDLSPY   PTISHINKEL   200
201   LALEVFQVSH   PRRQPDTPAE   LRT       250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
30_ASP ASN 8.3kJPN
chr14:77793201 		rs774350894
- 0.0001 -
32_GLU LYS gnomAD
chr14:77793207 		rs7975
- 0.306578 -
32_GLU LYS 8.3kJPN
chr14:77793207 		rs7975
- 0.52 -
42_GLY ARG gnomAD
chr14:77793237 		rs7972
- 0.0700038 -
47_SER CYS gnomAD
chr14:77793819 		rs138526285
- 0.000142424 -
52_ALA THR 8.3kJPN
chr14:77793833 		-
- 0.0001 -
82_MET THR gnomAD
chr14:77794283 		rs1046428
- 0.812679 -
82_MET THR 8.3kJPN
chr14:77794283 		rs1046428
- 0.9729 -
91_GLN ARG 8.3kJPN
chr14:77794310 		rs964930791
- 0.0001 -
99_VAL MET ClinVar
chr14:77794333 		rs140540096
Likely pathogenic - Maleylacetoacetate isomerase deficiency|not provided [MONDO:MONDO:0060527,MedGen:C1291607,OMIM:617596|MedGen:C3661900]
99_VAL MET gnomAD
chr14:77794333 		rs140540096
- 0.000501704 -
100_ARG HIS 8.3kJPN
chr14:77794337 		rs369022018
- 0.0004 -
132_GLN ARG gnomAD
chr14:77795518 		rs149349623
- 0.000290362 -
133_ASN HIS gnomAD
chr14:77795520 		rs2234955
- 0.000819353 -
133_ASN HIS 8.3kJPN
chr14:77795520 		rs2234955
- 0.0001 -
134_ALA THR gnomAD
chr14:77795523 		rs149972480
- 0.000358001 -
150_ALA VAL 8.3kJPN
chr14:77796125 		rs199552988
- 0.001 -
159_VAL MET 8.3kJPN
chr14:77796653 		-
- 0.0001 -
176_PHE LEU 8.3kJPN
chr14:77797415 		rs762764115
- 0.0001 -
189_ILE VAL gnomAD
chr14:77797452 		rs143936720
- 0.000350034 -
195_VAL ALA gnomAD
chr14:77797471 		rs112779751
- 0.000314258 -
203_HIS GLN 8.3kJPN
chr14:77797496 		rs373514679
- 0.0004 -
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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.