PDB ID 1C47     CHAIN A
Protein name ALPHA-D-GLUCOSE 1,6-BISPHOSPHATE PHOSPHOTRANSFERASE
Uniprot Accession P00949
The number of similar proteins 24
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
1C47 (CHAIN: A)
1 P00949  
2 Monomeric state

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Format:

Molecule viewer


Only interaction residues
#binding
partners
  1
  0

Sequence information

1   VKIVTVKTKA   YPDQKPGTSG   LRKRVKVFQS   STNYAENFIQ   SIISTVEPAQ   50
51   RQEATLVVGG   DGRFYMKEAI   QLIVRIAAAN   GIGRLVIGQN   GILSTPAVSC   100
101   IIRKIKAIGG   IILTASHNPG   GPNGDFGIKF   NISNGGPAPE   AITDKIFQIS   150
151   KTIEEYAICP   DLKVDLGVLG   KQQFDLENKF   KPFTVEIVDS   VEAYATMLRN   200
201   IFDFNALKEL   LSGPNRLKIR   IDAMHGVVGP   YVKKILCEEL   GAPANSAVNC   250
251   VPLEDFGGHH   PDPNLTYAAD   LVETMKSGEH   DFGAAFDGDG   DRNMILGKHG   300
301   FFVNPSDSVA   VIAANIFSIP   YFQQTGVRGF   ARSMPTSGAL   DRVANATKIA   350
351   LYETPTGWKF   FGNLMDASKL   SLCGEESFGT   GSDHIREKDG   LWAVLAWLSI   400
401   LATRKQSVED   ILKDHWHKFG   RNFFTRYDYE   EVEAEGATKM   MKDLEALMFD   450
451   RSFVGKQFSA   NDKVYTVEKA   DNFEYHDPVD   GSVSKNQGLR   LIFADGSRII   500
501   FRLSGTGSAG   ATIRLYIDSY   EKDNAKINQD   PQVMLAPLIS   IALKVSQLQE   550
551   RTGRTAPTVI   T         600

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
12_GLN HIS 8.3kJPN
chr1:64059198 		-
- 0.0001 -
22_ARG TRP gnomAD
chr1:64089252 		rs373963576
- 0.000153368 -
31_SER ILE 8.3kJPN
chr1:64059254 		-
- 0.0003 -
33_CYS TYR gnomAD
chr1:64089286 		rs140738630
- 0.000165894 -
33_ASN SER 8.3kJPN
chr1:64059260 		rs377752912
- 0.0004 -
35_ALA GLU gnomAD
chr1:64059266 		rs146477640
- 0.000104571 -
37_ASN TYR ClinVar
chr1:64059271 		rs587777402
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
52_GLN GLU 8.3kJPN
chr1:64059316 		-
- 0.0001 -
55_THR ALA 8.3kJPN
chr1:64059325 		rs1296179686
- 0.0001 -
55_SER LEU 8.3kJPN
chr1:64089352 		-
- 0.0001 -
58_VAL GLY 8.3kJPN
chr1:64059335 		rs1461918317
- 0.0001 -
65_PHE VAL 8.3kJPN
chr1:64089381 		-
- 0.0001 -
67_LYS MET 8.3kJPN
chr1:64059362 		rs200390982
- 0.0134 -
69_ALA VAL 8.3kJPN
chr1:64059368 		rs753363543
- 0.0001 -
71_GLU VAL gnomAD
chr1:64089400 		rs200881174
- 0.00059452 -
73_ILE VAL gnomAD
chr1:64089405 		rs554580781
- 0.00032443 -
74_ALA PRO 8.3kJPN
chr1:64059382 		rs1412343531
- 0.001 -
84_ARG CYS gnomAD
chr1:64095102 		rs150286818
- 0.000120549 -
84_ARG CYS 8.3kJPN
chr1:64095102 		rs150286818
- 0.0002 -
87_ILE VAL gnomAD
chr1:64095111 		rs855314
- 0.125297 -
87_ILE VAL 8.3kJPN
chr1:64095111 		rs855314
- 0.0008 -
89_GLN ARG 8.3kJPN
chr1:64095118 		-
- 0.0001 -
90_ASN ASP 8.3kJPN
chr1:64095120 		-
- 0.0007 -
98_VAL ILE 8.3kJPN
chr1:64095144 		-
- 0.0001 -
113_LEU PRO 8.3kJPN
chr1:64095190 		-
- 0.0001 -
114_THR ALA ClinVar
chr1:64095192 		rs121918371
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
120_GLY ARG ClinVar
chr1:64095210 		rs398122912
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
121_GLY CYS 8.3kJPN
chr1:64095213 		-
- 0.0001 -
141_ALA GLU 8.3kJPN
chr1:64095628 		-
- 0.0001 -
144_ASP ASN 8.3kJPN
chr1:64095636 		-
- 0.0001 -
147_PHE VAL gnomAD
chr1:64095645 		rs755467080
- 0.000350486 -
153_ILE VAL 8.3kJPN
chr1:64095663 		rs772005776
- 0.0001 -
170_GLY TER ClinVar
chr1:64095714 		-
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
190_SER LEU gnomAD
chr1:64097343 		rs147971989
- 0.000151386 -
216_ARG TER ClinVar
chr1:64097420 		rs770066171
Pathogenic - PGM1-congenital disorder of glycosylation|not provided [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646|MedGen:C3661900]
220_ARG CYS gnomAD
chr1:64097432 		rs1126728
- 0.244598 -
220_ARG CYS 8.3kJPN
chr1:64097432 		rs1126728
- 0.2073 -
223_ALA GLY 8.3kJPN
chr1:64097442 		-
- 0.0001 -
225_HIS ARG 8.3kJPN
chr1:64097448 		-
- 0.0002 -
229_GLY GLU ClinVar
chr1:64100506 		-
Likely pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
230_PRO LEU 8.3kJPN
chr1:64100509 		rs770860442
- 0.0001 -
235_ILE MET 8.3kJPN
chr1:64100525 		rs200237046
- 0.0002 -
244_ALA VAL gnomAD
chr1:64100551 		rs929270819
- 0.000103656 -
251_VAL ILE 8.3kJPN
chr1:64100571 		rs139155697
- 0.0001 -
262_ASP TYR ClinVar
chr1:64100604 		rs587777404
Pathogenic - PGM1-congenital disorder of glycosylation|PGM1-related condition [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646|]
267_TYR TER ClinVar
chr1:64100621 		rs1302961946
Likely pathogenic - not provided [MedGen:CN517202]
284_ALA THR 8.3kJPN
chr1:64100670 		rs1181503630
- 0.0001 -
290_GLY ARG ClinVar
chr1:64100688 		-
Likely pathogenic - PGM1-congenital disorder of glycosylation|PGM1-related condition [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646|]
292_ARG TER ClinVar
chr1:64101908 		-
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
329_GLY ARG ClinVar
chr1:64102019 		rs777164338
Pathogenic/Likely pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
332_ARG TRP 8.3kJPN
chr1:64102028 		rs775557419
- 0.0001 -
334_MET VAL 8.3kJPN
chr1:64102034 		rs764289842
- 0.0002 -
349_ILE VAL gnomAD
chr1:64104375 		rs751121095
- 0.000139206 -
367_ALA VAL gnomAD
chr1:64104430 		rs145972303
- 0.00047735 -
367_ALA THR 8.3kJPN
chr1:64104429 		rs748252747
- 0.0001 -
368_SER ARG gnomAD
chr1:64104434 		rs200407907
- 0.000326168 -
381_GLY SER 8.3kJPN
chr1:64104471 		rs750763684
- 0.0001 -
401_LEU VAL 8.3kJPN
chr1:64114247 		rs766113334
- 0.0001 -
404_ARG SER gnomAD
chr1:64114256 		rs754131603
- 0.000111492 -
410_ASP VAL 8.3kJPN
chr1:64114275 		-
- 0.0001 -
419_TYR HIS gnomAD
chr1:64114301 		rs11208257
- 0.234412 -
419_TYR HIS 8.3kJPN
chr1:64114301 		rs11208257
- 0.1695 -
420_GLY ASP 8.3kJPN
chr1:64114305 		-
- 0.0004 -
426_ARG THR 8.3kJPN
chr1:64114323 		-
- 0.0001 -
427_TYR CYS 8.3kJPN
chr1:64117342 		rs769633745
- 0.0001 -
437_ALA THR 8.3kJPN
chr1:64117371 		rs201303497
- 0.0001 -
442_LYS ASN 8.3kJPN
chr1:64117388 		-
- 0.0001 -
445_GLU LYS 8.3kJPN
chr1:64117395 		rs199918985
- 0.0006 -
446_ALA THR 8.3kJPN
chr1:64117398 		-
- 0.0001 -
466_THR ASN gnomAD
chr1:64117459 		rs150266274
- 0.00134492 -
478_PRO ALA 8.3kJPN
chr1:64117494 		-
- 0.0001 -
498_ARG TER ClinVar
chr1:64120033 		rs745993071
Pathogenic/Likely pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
498_ARG GLN gnomAD
chr1:64120034 		rs770023140
- 0.000107487 -
500_VAL ILE gnomAD
chr1:64120039 		rs6676290
- 0.0121898 -
502_ARG TER ClinVar
chr1:64120045 		rs397515423
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
514_ARG GLN ClinVar
chr1:64120082 		rs1453920894
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
515_LEU PRO ClinVar
chr1:64120085 		rs587777401
Pathogenic - PGM1-congenital disorder of glycosylation [MONDO:MONDO:0013968,MedGen:C2752015,OMIM:614921,Orphanet:319646]
516_TYR TER ClinVar
chr1:64120089 		rs1557445467
Likely pathogenic - not provided [MedGen:CN517202]
517_ILE MET 8.3kJPN
chr1:64120092 		rs760587298
- 0.0001 -
524_VAL ILE gnomAD
chr1:64120111 		rs138680029
- 0.000127311 -
524_VAL ILE 8.3kJPN
chr1:64120111 		rs138680029
- 0.002 -
542_ALA PRO 8.3kJPN
chr1:64125284 		-
- 0.0001 -
554_ARG HIS 8.3kJPN
chr1:64125321 		rs765405068
- 0.0001 -
555_THR ILE 8.3kJPN
chr1:64125324 		-
- 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.