PiSITE

PDB ID	2DE0	CHAIN	X
Protein name	Alpha-(1,6)-fucosyltransferase
Uniprot Accession	Q9BYC5
The number of similar proteins	16
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
	2DE0 (CHAIN: X)
1	Monomeric state
2	Q9BYC5

Downdload

Molecule viewer

Only interaction residues

#binding
partners

	1
	0

Sequence information

ADLGSRIPEG

PIDQGPAIGR

VRVLEEQLVK

AKEQIENYKK

QTRNGLGKDH

EILRRRIENG

AKELWFFLQS

ELKKLKNLEG

NELQRHADEF

LLDLGHHERS

100

101

IMTDLYYLSQ

TDGAGDWREK

EAKDLTELVQ

RRITYLQNPK

DCSKAKKLVC

150

151

NINKGCGYGC

QLHHVVYCFM

IAYGTQRTLI

LESQNWRYAT

GGWETVFRPV

200

201

SETCTDRSGI

STGHWSGEVK

DKNVQVVELP

IVDSLHPRPP

YLPLAVPEDL

250

251

ADRLVRVHGD

PAVWWVSQFV

KYLIRPQPWL

EKEIEEATKK

LGFKHPVIGV

300

301

HVRRTDKVGT

EAAFHPIEEY

MVHVEEHFQL

LARRMQVDKK

RVYLATDDPS

350

351

LLKEAKTKYP

NYEFISDNSI

SWSAGLHNRY

TENSLRGVIL

DIHFLSQADF

400

401

LVCTFSSQVC

RVAYEIMQTL

HPDASANFHS

LDDIYYFGGQ

NAHNQIAIYA

450

451

HQPRTADEIP

MEPGDIIGVA

GNHWDGYSKG

VNRKLGRTGL

YPSYKVREKI

500

501

ETVKYPTYPE

AEKAGGGHHH

HHHGGG

550

Variants

Residue	AA	Source	dbSNP	Clinical Significance	Allele Frequency (> 0.0001)	Disease name
124_LYS	GLU	gnomAD chr14:66082979	rs200973027	-	0.00013207	-
150_ASP	GLY	8.3kJPN chr14:66083058	-	-	0.0001	-
153_LEU	VAL	gnomAD chr14:66083066	rs78083604	-	0.000600403	-
153_LEU	VAL	8.3kJPN chr14:66083066	rs78083604	-	0.0472	-
165_THR	MET	gnomAD chr14:66096221	rs563916863	-	0.000203027	-
187_LEU	MET	gnomAD chr14:66096286	rs376707676	-	0.000131267	-
193_ARG	GLN	8.3kJPN chr14:66096305	rs566350467	-	0.0003	-
239_ARG	TER	ClinVar chr14:66136078	rs1460811017	Pathogenic	-	Congenital disorder of glycosylation with defective fucosylation 1\|not provided\|Inborn genetic diseases [MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123]
239_ARG	GLN	8.3kJPN chr14:66136079	-	-	0.0001	-
264_GLU	GLY	8.3kJPN chr14:66136154	-	-	0.0001	-
267_THR	LYS	VAR_033537	rs35949016	LB/B	-	-
267_THR	LYS	gnomAD chr14:66136163	rs35949016	-	0.170226	-
267_THR	LYS	8.3kJPN chr14:66136163	rs35949016	-	0.1457	-
272_ILE	VAL	8.3kJPN chr14:66136177	rs1427303490	-	0.0001	-
286_VAL	ILE	8.3kJPN chr14:66188513	-	-	0.0001	-
305_PRO	HIS	8.3kJPN chr14:66188571	-	-	0.0001	-
308_VAL	ILE	8.3kJPN chr14:66188579	-	-	0.0001	-
313_ALA	THR	8.3kJPN chr14:66188594	rs150267898	-	0.0001	-
315_ARG	TER	ClinVar chr14:66188600	rs1334593208	Pathogenic	-	Congenital disorder of glycosylation with defective fucosylation 1 [MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005]
318_ARG	TER	ClinVar chr14:66188609	rs371242983	Likely pathogenic	-	Congenital disorder of glycosylation with defective fucosylation 1 [MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005]
318_ARG	GLN	gnomAD chr14:66188610	rs542752061	-	0.000143146	-
320_HIS	ARG	8.3kJPN chr14:66188616	-	-	0.0001	-
337_ARG	GLY	VAR_080980	-	LP/P	-	Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1) [MIM:618005]
337_ARG	GLY	ClinVar chr14:66188666	rs1297536872	Pathogenic	-	Congenital disorder of glycosylation with defective fucosylation 1 [MONDO:MONDO:0020775,MedGen:CN258220,OMIM:618005]
395_ARG	HIS	gnomAD chr14:66190966	rs528177177	-	0.000103782	-
410_ASP	GLU	8.3kJPN chr14:66191012	-	-	0.0001	-
412_SER	PRO	8.3kJPN chr14:66191016	-	-	0.0001	-
414_LEU	ILE	8.3kJPN chr14:66191022	-	-	0.0001	-
440_ASN	SER	gnomAD chr14:66200008	rs750909139	-	0.000100245	-
454_ILE	VAL	8.3kJPN chr14:66200049	rs1043316809	-	0.0001	-
478_ILE	LEU	8.3kJPN chr14:66208832	rs760318298	-	0.0001	-
486_ALA	VAL	8.3kJPN chr14:66208857	-	-	0.0001	-
523_MET	ILE	8.3kJPN chr14:66208969	-	-	0.0001	-
550_THR	MET	gnomAD chr14:66209049	rs149328619	-	0.000139594	-
558_VAL	ILE	8.3kJPN chr14:66209072	-	-	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