PDB ID 1NST     CHAIN A
Protein name HEPARAN SULFATE N-DEACETYLASE/N-SULFOTRANSFERASE
Uniprot Accession P52848
The number of similar proteins 1
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
1NST (CHAIN: A)
1 Monomeric state

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  0

Sequence information

1   LQTLPPVQLA   QKYFQIFSEE   KDPLWQDPCE   DKRHKDIWSK   EKTCDRFPKL   50
51   LIIGPQKTGT   TALYLFLGMH   PDLSSNYPSS   ETFEEIQFFN   GHNYHKGIDW   100
101   YMEFFPIPSN   TTSDFYFEKS   ANYFDSEVAP   RRAAALLPKA   KVLTILINPA   150
151   DRAYSWYQHQ   RAHDDPVALK   YTFHEVITAG   SDASSKLRAL   QNRCLVPGWY   200
201   ATHIERWLSA   YHANQILVLD   GKLLRTEPAK   VMDMVQKFLG   VTNTIDYHKT   250
251   LAFDPKKGFW   CQLLEGGKTK   CLGKSKGRKY   PEMDLDSRAF   LKDYYRDHNI   300
301   ELSKLLYKMG   QTLPTWLRED   LQNTR       350

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
583_GLN PRO 8.3kJPN
chr5:149919825 		-
- 0.0001 -
603_ARG CYS gnomAD
chr5:149921189 		rs748488030
- 0.000234893 -
603_ARG HIS 8.3kJPN
chr5:149921190 		rs756538941
- 0.0001 -
611_GLY SER VAR_072646 rs606231459
LP/P - Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116]
611_GLY SER ClinVar
chr5:149921213 		rs606231459
Pathogenic/Likely pathogenic - Intellectual disability, autosomal recessive 46|not provided|Global developmental delay|See cases [MONDO:MONDO:0014499,MedGen:C4015283,OMIM:616116,Orphanet:88616|MedGen:C3661900|Human Phenotype Ontology:HP:0000754,Human Phenotype Ontology:HP:0001255,Human Phenotype Ontology:HP:0001263,Human Phenotype Ontology:HP:0001277,Human Phenotype Ontology:HP:0001292,Human Phenotype Ontology:HP:0002433,Human Phenotype Ontology:HP:0002473,Human Phenotype Ontology:HP:0002532,Human Phenotype Ontology:HP:0006793,Human Phenotype Ontology:HP:0006867,Human Phenotype Ontology:HP:0006885,Human Phenotype Ontology:HP:0006935,Human Phenotype Ontology:HP:0007005,Human Phenotype Ontology:HP:0007094,Human Phenotype Ontology:HP:0007106,Human Phenotype Ontology:HP:0007174,Human Phenotype Ontology:HP:0007224,Human Phenotype Ontology:HP:0007228,Human Phenotype Ontology:HP:0007342,Human Phenotype Ontology:HP:0025356,MedGen:C0557874|]
622_LEU GLN 8.3kJPN
chr5:149922428 		-
- 0.0002 -
640_PHE LEU VAR_072647 rs606231458
LP/P - Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116]
640_PHE LEU ClinVar
chr5:149922481 		rs606231458
Likely pathogenic - Intellectual disability, autosomal recessive 46 [MONDO:MONDO:0014499,MedGen:C4015283,OMIM:616116,Orphanet:88616]
642_GLU ASP VAR_072648 rs606231457
LP/P - Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116]
642_GLU ASP ClinVar
chr5:149922489 		rs606231457
Pathogenic - Intellectual disability, autosomal recessive 46 [MONDO:MONDO:0014499,MedGen:C4015283,OMIM:616116,Orphanet:88616]
656_ASP GLY 8.3kJPN
chr5:149922530 		-
- 0.0001 -
680_TYR ASN 8.3kJPN
chr5:149924941 		-
- 0.0001 -
688_ARG TRP 8.3kJPN
chr5:149924965 		rs762416903
- 0.0003 -
701_THR SER gnomAD
chr5:149925005 		rs141935011
- 0.000163067 -
707_ALA VAL 8.3kJPN
chr5:149925023 		rs138889348
- 0.001 -
709_ARG GLN VAR_072649 rs606231456
LP/P - Intellectual developmental disorder, autosomal recessive 46 (MRT46) [MIM:616116]
709_ARG GLN ClinVar
chr5:149925029 		rs606231456
Pathogenic - Intellectual disability, autosomal recessive 46 [MONDO:MONDO:0014499,MedGen:C4015283,OMIM:616116,Orphanet:88616]
728_TYR PHE 8.3kJPN
chr5:149927817 		-
- 0.0001 -
736_ALA THR 8.3kJPN
chr5:149927840 		rs767696902
- 0.0001 -
740_ALA THR gnomAD
chr5:149927852 		rs143628072
- 0.000123358 -
740_ALA SER 8.3kJPN
chr5:149927852 		-
- 0.0001 -
742_SER LEU 8.3kJPN
chr5:149927859 		rs977524041
- 0.0001 -
752_LEU VAL 8.3kJPN
chr5:149927888 		-
- 0.0001 -
762_GLU LYS 8.3kJPN
chr5:149927918 		rs775686138
- 0.0001 -
782_ARG CYS 8.3kJPN
chr5:149929267 		rs992170274
- 0.0001 -
782_ARG LEU 8.3kJPN
chr5:149929268 		rs747907538
- 0.0002 -
809_ALA VAL 8.3kJPN
chr5:149929349 		rs201660056
- 0.0001 -
812_PRO SER 8.3kJPN
chr5:149931322 		rs555617163
- 0.0002 -
830_GLY CYS 8.3kJPN
chr5:149931376 		-
- 0.0001 -
835_ARG TRP 8.3kJPN
chr5:149931391 		rs766771345
- 0.0001 -
853_ARG TRP 8.3kJPN
chr5:149932802 		rs768673584
- 0.0001 -
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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.