PDB ID 2W2M     CHAIN A
Protein name PROPROTEIN CONVERTASE SUBTILISIN/KEXIN TYPE 9
Uniprot Accession Q8NBP7
The number of similar proteins 15
The number of binding states 4
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2W2M (CHAIN: A)
1 2W2N   2W2N  
2 Q8NBP7  
3 4OV6   Q8NBP7  
4 Q8NBP7   2XTJ   2XTJ  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   SIPWNLERIT   PPRYRADEYQ   PPDGGSLVEV   YLLDTSIQSD   HREIEGRVMV   50
51   TDFENVPEED   GTRFHRQASK   CDSHGTHLAG   VVSGRDAGVA   KGASMRSLRV   100
101   LNCQGKGTVS   GTLIGLEFIR   KSQLVQPVGP   LVVLLPLAGG   YSRVLNAACQ   150
151   RLARAGVVLV   TAAGNFRDDA   CLYSPASAPE   VITVGATNAQ   DQPVTLGTLG   200
201   TNFGRCVDLF   APGEDIIGAS   SDCSTCFVSQ   SGTSQAAAHV   AGIAAMMLSA   250
251   EPELTLAELR   QRLIHFSAKD   VINEAWFPED   QRVLTPNLVA   ALPPSTHGAA   300
301   GTAAASHHHH   HH         350

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
153_SER ASN 8.3kJPN
chr1:55512254 		-
- 0.0001 -
157_ASN LYS VAR_058525 rs143117125
LB/B - -
209_PRO LEU 8.3kJPN
chr1:55518053 		-
- 0.0001 -
233_VAL ALA 8.3kJPN
chr1:55518363 		-
- 0.0001 -
236_GLY SER 8.3kJPN
chr1:55518371 		rs149489325
- 0.0001 -
237_ARG TRP VAR_025452 rs148195424
LB/B - -
237_ARG TRP gnomAD
chr1:55518374 		rs148195424
- 0.000718598 -
237_ARG TRP 8.3kJPN
chr1:55518374 		rs148195424
- 0.0001 -
239_ALA ASP VAR_058529 -
LB/B - -
241_VAL MET 8.3kJPN
chr1:55518386 		rs147478188
- 0.0001 -
246_SER ASN 8.3kJPN
chr1:55518402 		-
- 0.0001 -
248_ARG CYS 8.3kJPN
chr1:55518407 		rs779824389
- 0.0002 -
253_LEU PHE VAR_025453 rs72646508
LB/B - -
253_LEU PHE gnomAD
chr1:55518422 		rs72646508
- 0.000192791 -
263_GLY SER 8.3kJPN
chr1:55518452 		rs200146448
- 0.007 -
264_THR ILE 8.3kJPN
chr1:55518456 		rs201789841
- 0.0051 -
279_PRO THR gnomAD
chr1:55521701 		rs72646509
- 0.000308363 -
298_ASN ASP gnomAD
chr1:55521758 		rs575003139
- 0.000108556 -
310_VAL MET 8.3kJPN
chr1:55521794 		rs1200999906
- 0.0001 -
323_CYS SER 8.3kJPN
chr1:55521834 		rs1307302473
- 0.0001 -
354_ASN ILE ClinVar
chr1:55523068 		rs1553137543
Likely pathogenic - Hypercholesterolemia, familial, 1 [MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665]
357_ARG HIS VAR_058530 rs370507566
LP/P - Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776]
357_ARG CYS gnomAD
chr1:55523076 		rs148562777
- 0.00015117 -
357_ARG CYS 8.3kJPN
chr1:55523076 		rs148562777
- 0.0001 -
367_ASP HIS gnomAD
chr1:55523106 		rs141867978
- 0.000230776 -
374_ASP HIS VAR_058531 rs137852912
LP/P - Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776]
374_ASP TYR VAR_058532 rs137852912
LP/P - Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776]
374_ASP TYR ClinVar
chr1:55523127 		rs137852912
Pathogenic/Likely pathogenic - Hypercholesterolemia, autosomal dominant, 3|Hypercholesterolemia, familial, 1 [MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665]
374_ASP HIS ClinVar
chr1:55523127 		rs137852912
Pathogenic - Hypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3 [MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776]
378_CYS TRP 8.3kJPN
chr1:55523141 		rs776752113
- 0.0001 -
391_HIS ASN VAR_025454 rs146471967
LB/B - -
391_HIS ASN gnomAD
chr1:55523178 		rs146471967
- 0.000162615 -
392_VAL MET ClinVar
chr1:55523181 		rs1254346075
Pathogenic - Hypercholesterolemia, familial, 1 [MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665]
394_GLY SER VAR_067282 rs368257906
US - -
412_ARG LYS 8.3kJPN
chr1:55523763 		rs775522541
- 0.0001 -
417_HIS GLN VAR_025455 rs143275858
LB/B - -
417_HIS GLN gnomAD
chr1:55523779 		rs143275858
- 0.000214927 -
424_ILE VAL 8.3kJPN
chr1:55523798 		rs759250273
- 0.0092 -
425_ASN SER VAR_021337 rs28362261
LB/B - -
425_ASN SER gnomAD
chr1:55523802 		rs28362261
- 0.00122609 -
428_TRP TER 8.3kJPN
chr1:55523812 		-
- 0.0007 -
443_ALA THR VAR_021338 rs28362263
LB/B - -
443_ALA THR gnomAD
chr1:55523855 		rs28362263
- 0.00719433 -
(Powered by wupsivus)

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.