PDB ID 2PMW CHAIN B
Protein name Proprotein convertase subtilisin/kexin type 9
Uniprot Accession Q5SZQ2
The number of similar proteins 13
The number of binding states 5
The number of binding partners 5
Coloring
Unicolor (beige)
The number of binding partners
Group

Binding
state
Binding partners
Downdload
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Molecule viewer
#binding
partners
  5
  4
  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   ALPPSTHGAG   300
301   WQLFCRTVWS   AHSGPTRMAT   AVARCAPDEE   LLSCSSFSRS   GKRRGERMEA   350
351   QGGKLVCRAH   NAFGGEGVYA   IARCCLLPQA   NCSVHTAPPA   EASMGTRVHC   400
401   HQQGHVLTGC   SSHWEVEDLG   THKPPVLRPR   GQPNQCVGHR   EASIHASCCH   450
451   APGLECKVKE   HGIPAPQEQV   TVACEEGWTL   TGCSALPGTS   HVLGAYAVDN   500
501   TCVVRSRDVS   TTGSTSEGAV   TAVAICCRSR   HLAQASQELQ     550
Variants
Residue AA Source dbSNP Clinical
Significance
Disease name
204_ASP ASN ClinVar
chr1:55518037
rs793888521 Likely pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
220_ALA THR ClinVar
chr1:55518323
rs768795323 Pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
354_ASN ILE ClinVar
chr1:55523068
rs1553137543 Likely pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
374_ASP TYR ClinVar
chr1:55523127
rs137852912 Pathogenic/Likely pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]; Hypercholesterolemia, autosomal dominant, 3 [MedGen:C1863551,OMIM:603776]
374_ASP HIS ClinVar
chr1:55523127
rs137852912 Pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
392_VAL MET ClinVar
chr1:55523181
rs1254346075 Pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
467_PRO ALA ClinVar
chr1:55524216
rs772677312 Likely pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
468_THR ALA ClinVar
chr1:55524219
rs1553137693 Pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
471_ALA SER ClinVar
chr1:55524228
rs1553137699 Pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
476_ARG CYS ClinVar
chr1:55524243
rs761767572 Pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]
513_ASN ASP ClinVar
chr1:55525192
rs1057516136 Likely pathogenic Familial hypercholesterolemia [MedGen:C0745103,OMIM:143890,SNOMED CT:397915002,SNOMED CT:398036000]