PiSITE

PDB ID	1KWS	CHAIN	A
Protein name	BETA-1,3-GLUCURONYLTRANSFERASE 3
Uniprot Accession	O94766
The number of similar proteins	6
The number of binding states	1
The number of binding partners	1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding state	Binding partners
	1KWS (CHAIN: A)
1	O94766

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Molecule viewer

Only interaction residues

#binding
partners

	1
	0

Sequence information

MTIYVVTPTY

ARLVQKAELV

RLSQTLSLVP

RLHWLLVEDA

EGPTPLVSGL

LAASGLLFTH

LVVLTPKAQR

LREGEPGWVH

PRGVEQRNKA

LDWLRGRGGA

100

101

VGGEKDPPPP

GTQGVVYFAD

DDNTYSRELF

EEMRWTRGVS

VWPVGLVGGL

150

151

RFEGPQVQDG

RVVGFHTAWE

PSRPFPVDMA

GFAVALPLLL

DKPNAQFDST

200

201

APRGHLESSL

LSHLVDPKDL

EPRAANCTRV

LVWHTRTEKP

KMKQEEQLQR

250

251

QGRGSDPAIE

300

Variants

Residue	AA	Source	dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	Disease name
82_PRO	LEU	ClinVar chr11:62387981	rs755601885	Pathogenic	-	Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]
84_TYR	CYS	8.3kJPN chr11:62387975	-	-	0.0001	-
95_ARG	TER	ClinVar chr11:62384794	rs750685646	Pathogenic/Likely pathogenic	-	Larsen-like syndrome, B3GAT3 type\|not provided [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139\|MedGen:C3661900]
111_VAL	MET	ClinVar chr11:62384746	rs1085307917	Likely pathogenic	-	not provided [MedGen:CN517202]
112_GLU	TER	ClinVar chr11:62384743	-	Pathogenic	-	Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]
119_PRO	LEU	8.3kJPN chr11:62384721	rs746566185	-	0.0001	-
133_THR	ILE	8.3kJPN chr11:62384679	-	-	0.0001	-
140_PRO	LEU	ClinVar chr11:62384658	rs879255269	Pathogenic	-	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS [-]
161_ARG	TRP	8.3kJPN chr11:62384596	rs765246909	-	0.0001	-
169_ARG	TRP	ClinVar chr11:62384572	rs766019547	Pathogenic	-	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS\|Larsen-like syndrome, B3GAT3 type [\|MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]
183_PRO	GLN	8.3kJPN chr11:62384529	-	-	0.0001	-
185_GLY	GLU	gnomAD chr11:62384523	rs140755387	-	0.000652124	-
193_ALA	ASP	8.3kJPN chr11:62384499	-	-	0.0001	-
201_ARG	GLN	8.3kJPN chr11:62384475	rs1242695402	-	0.0006	-
202_GLU	TER	ClinVar chr11:62384473	-	Pathogenic	-	Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]
211_ARG	CYS	8.3kJPN chr11:62384256	rs745645272	-	0.0002	-
223_GLY	SER	VAR_075371	rs372487178	US	-	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]
223_GLY	SER	ClinVar chr11:62384220	rs372487178	Pathogenic	-	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS [-]
224_LEU	GLN	ClinVar chr11:62384216	rs1419830872	Pathogenic	-	not provided [MedGen:C3661900]
225_ARG	TER	ClinVar chr11:62384214	rs377340567	Pathogenic/Likely pathogenic	-	not provided\|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS\|Larsen-like syndrome, B3GAT3 type [MedGen:C3661900\|\|MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]
231_VAL	LEU	8.3kJPN chr11:62384196	rs769766579	-	0.0002	-
235_ARG	GLN	8.3kJPN chr11:62384183	rs758179182	-	0.0001	-
237_VAL	MET	gnomAD chr11:62384178	rs140378202	-	0.00122484	-
255_GLY	ALA	8.3kJPN chr11:62384123	-	-	0.0001	-
258_VAL	MET	gnomAD chr11:62384115	rs200860039	-	0.000553089	-
258_VAL	MET	8.3kJPN chr11:62384115	rs200860039	-	0.0016	-
274_THR	ASN	gnomAD chr11:62384066	rs112223093	-	0.00134492	-
277_ARG	GLN	VAR_066624	rs387906937	LP/P	-	Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]
277_ARG	GLN	ClinVar chr11:62384057	rs387906937	Pathogenic/Likely pathogenic	-	Larsen-like syndrome, B3GAT3 type\|MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS\|not provided [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139\|\|MedGen:C3661900]
297_ARG	TRP	ClinVar chr11:62383998	rs759636773	Pathogenic	-	Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]
310_ARG	GLN	8.3kJPN chr11:62383252	rs779076359	-	-	-
324_ARG	TRP	8.3kJPN chr11:62383211	rs780467028	-	0.0001	-
327_ARG	TRP	gnomAD chr11:62383202	rs200511074	-	0.000167828	-
329_SER	TER	ClinVar chr11:62383195	-	Likely pathogenic	-	Larsen-like syndrome, B3GAT3 type [MONDO:MONDO:0009511,MedGen:C3278404,OMIM:245600,Orphanet:284139]

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