PDB ID 1SO8     CHAIN A
Protein name 3-hydroxyacyl-CoA dehydrogenase type II
Uniprot Accession Q99714
The number of similar proteins 7
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
1SO8 (CHAIN: A)
1 Monomeric state
2 Q6IBS9  
3 Q99714   Q99714   Q99714  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   MAAACRSVKG   LVAVITGGAS   GLGLATAERL   VGQGASAVLL   DLPNSGGEAQ   50
51   AKKLGNNCVF   APADVTSEKD   VQTALALAKG   KFGRVDVAVN   CAGIAVASKT   100
101   YNLKKGQTHT   LEDFQRVLDV   NLMGTFNVIR   LVAGEMGQNE   PDQGGQRGVI   150
151   INTASVAAFE   GQVGQAAYSA   SKGGIVGMTL   PIARDLAPIG   IRVMTIAPGL   200
201   FGTPLLTSLP   EKVCNFLASQ   VPFPSRLGDP   AEYAHLVQAI   IENPFLNGEV   250
251   IRLDGAIRMQ   P         300

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
12_VAL LEU VAR_080049 -
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
29_ARG GLY ClinVar
chrX:53460776 		rs1348504554
Likely pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
55_GLY GLU ClinVar
chrX:53460697 		rs2075834227
Likely pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
65_VAL ALA VAR_078863 rs104886492
US - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
80_GLY ALA gnomAD
chrX:53459313 		rs781891910
- 0.000333317 -
86_ASP GLY VAR_078864 rs587777651
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
86_ASP GLY ClinVar
chrX:53459295 		rs587777651
Pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
122_LEU VAL VAR_015987 rs28935476
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
127_ASN SER ClinVar
chrX:53459042 		-
Likely pathogenic - HSD17B10-related condition [-]
130_ARG CYS VAR_015988 rs28935475
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
130_ARG CYS ClinVar
chrX:53459034 		rs28935475
Pathogenic - HSD10 mitochondrial disease|not provided [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295|MedGen:C3661900]
147_ARG CYS ClinVar
chrX:53458983 		rs1064794694
Pathogenic/Likely pathogenic - not provided|Inborn genetic diseases|HSD10 mitochondrial disease|Neurodevelopmental delay [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295|Human Phenotype Ontology:HP:0012758,MedGen:C4022738]
165_GLN HIS VAR_078865 -
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
173_GLY ARG ClinVar
chrX:53458824 		rs1602426573
Likely pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
176_VAL MET VAR_080050 -
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
192_ARG ARG ClinVar
chrX:53458767 		rs122462164
Pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
198_PRO THR ClinVar
chrX:53458749 		rs886037927
Likely pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
236_LEU PHE ClinVar
chrX:53458432 		-
Likely pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
247_ASN SER VAR_032093 rs122461163
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
247_ASN SER ClinVar
chrX:53458398 		rs122461163
Pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
249_GLU GLN VAR_078867 rs62626305
LP/P - HSD10 mitochondrial disease (HSD10MD) [MIM:300438]
249_GLU GLN ClinVar
chrX:53458393 		rs62626305
Pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
251_ILE MET ClinVar
chrX:53458385 		rs2075824424
Likely pathogenic - HSD10 mitochondrial disease [MONDO:MONDO:0010327,MedGen:C3266731,OMIM:300438,Orphanet:391417,Orphanet:85295]
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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.