PDB ID 2FFV     CHAIN A
Protein name Polypeptide N-acetylgalactosaminyltransferase 2
Uniprot Accession Q10471
The number of similar proteins 17
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
2FFV (CHAIN: A)
1 Monomeric state
2 Q10471  

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   SDALKVRWPD   FNQEAYVGGT   MVRSGQDPYA   RNKFNQVESD   KLRMDRAIPD   50
51   TRHDQCQRKQ   WRVDLPATSV   VITFHNEARS   ALLRTVVSVL   KKSPPHLIKE   100
101   IILVDDYSND   PEDGALLGKI   EKVRVLRNDR   REGLMRSRVR   GADAAQAKVL   150
151   TFLDSHCECN   EHWLEPLLER   VAEDRTRVVS   PIIDVINMDN   FQYVGASADL   200
201   KGGFDWNLVF   KWDYMTPEQR   RSRQGNPVAP   IKTPMIAGGL   FVMDKFYFEE   250
251   LGKYDMMMDV   WGGENLEISF   RVWQCGGSLE   IIPCSRVGHV   FRKQHPYTFP   300
301   GGSGTVFARN   TRRAAEVWMD   EYKNFYYAAV   PSARNVPYGN   IQSRLELRKK   350
351   LSCKPFKWYL   ENVYPELRVP   DHQDIAFGAL   QQGTNCLDTL   GHFADGVVGV   400
401   YECHNAGGNQ   EWALTKEKSV   KHMDLCLTVV   DRAPGSLIKL   QGCRENDSRQ   450
451   KWEQIEGNSK   LRHVGSNLCL   DSRTAKSGGL   SVEVCGPALS   QQWKFTLNLQ   500
501   Q           550

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
77_ARG GLN 8.3kJPN
chr1:230338892 		rs184261638
- 0.0002 -
89_GLY ARG 8.3kJPN
chr1:230338927 		rs778993510
- 0.0001 -
100_ALA THR 8.3kJPN
chr1:230338960 		rs1370421490
- 0.0001 -
104_PHE SER VAR_084283 rs1663960324
LP/P - Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885]
104_PHE SER ClinVar
chr1:230338973 		rs1663960324
Likely pathogenic - Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885]
113_ARG GLN 8.3kJPN
chr1:230339000 		rs749888628
- - -
128_ARG TRP 8.3kJPN
chr1:230371767 		rs779465339
- 0.0005 -
181_PRO ALA 8.3kJPN
chr1:230372166 		rs537078461
- 0.0001 -
186_LEU PHE 8.3kJPN
chr1:230372420 		rs888099654
- 0.0001 -
200_ARG TER ClinVar
chr1:230372462 		rs1431963909
Pathogenic - Congenital disorder of glycosylation, type iit|not provided [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885|MedGen:C3661900]
208_ARG GLN ClinVar
chr1:230379067 		rs2102741708
Likely pathogenic - Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885]
210_ARG PRO VAR_084285 -
LP/P - Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885]
210_ARG PRO ClinVar
chr1:230379073 		rs376870425
Likely pathogenic - Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885]
210_ARG GLN 8.3kJPN
chr1:230379073 		rs376870425
- 0.0001 -
216_GLN HIS gnomAD
chr1:230379092 		rs142046356
- 0.00154706 -
241_VAL MET 8.3kJPN
chr1:230379165 		-
- 0.0001 -
245_ARG HIS VAR_049240 rs1923950
LB/B - -
245_ARG GLY 8.3kJPN
chr1:230381812 		-
- 0.0001 -
247_ARG GLN 8.3kJPN
chr1:230381819 		rs760418370
- 0.0002 -
271_LYS ARG VAR_084286 -
US - -
289_GLN TER ClinVar
chr1:230384977 		rs1665467473
Pathogenic - Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885]
293_ARG TRP 8.3kJPN
chr1:230384989 		rs773042550
- 0.0001 -
294_GLN TER 8.3kJPN
chr1:230384992 		-
- 0.0001 -
299_ALA THR gnomAD
chr1:230385007 		rs199925000
- 0.000111406 -
314_ASP ALA gnomAD
chr1:230386238 		rs78164071
- 0.00237836 -
315_LYS ARG 8.3kJPN
chr1:230386241 		-
- 0.0002 -
326_MET VAL 8.3kJPN
chr1:230386273 		rs1490001955
- 0.0001 -
327_MET ILE 8.3kJPN
chr1:230386278 		rs777276912
- 0.0001 -
341_ARG HIS 8.3kJPN
chr1:230390976 		rs755413572
- 0.0001 -
342_VAL LEU 8.3kJPN
chr1:230390978 		-
- 0.0001 -
370_PRO LEU 8.3kJPN
chr1:230391063 		rs376128700
- 0.0001 -
445_ILE VAL gnomAD
chr1:230401006 		rs201830158
- 0.000206768 -
489_SER LEU 8.3kJPN
chr1:230410216 		rs769823155
- 0.0003 -
493_MET VAL VAR_084288 rs774570005
LB/B - -
502_ARG GLN gnomAD
chr1:230410255 		rs144216012
- 0.000274588 -
502_ARG GLN 8.3kJPN
chr1:230410255 		rs144216012
- 0.0001 -
534_VAL MET gnomAD
chr1:230415088 		rs141375194
- 0.000123441 -
543_ARG HIS 8.3kJPN
chr1:230415116 		rs201604838
- 0.0001 -
554_VAL MET VAR_019575 rs2273970
LB/B - -
554_VAL MET gnomAD
chr1:230415148 		rs2273970
- 0.0911089 -
554_VAL MET 8.3kJPN
chr1:230415148 		rs2273970
- 0.2832 -
557_PRO LEU 8.3kJPN
chr1:230415158 		rs755670523
- 0.0002 -
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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.