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Results for the Protein: Q8NBP7
317373487

PCSK9_HUMAN RecName: Full=Proprotein convertase subtilisin/kexin type 9; AltName: Full=Neural apoptosis-regulated convertase 1; Short=NARC-1; AltName: Full=Proprotein convertase 9; Short=PC9; AltName: Full=Subtilisin/kexin-like protease PC9; Flags: Precursor

Known Diseases associated with this Protein:
  1
  HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 (HCHOLA3)
  HYPERCHOLESTEROLEMIA, FAMILIAL, 3
  LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS
15
30
6
4
35
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Default View:

AprE - COG1404
Peptidases_S8_Subtil - cd07483
Inhibitor_I9 - pfam05922
Peptidases_S8_Protei - cd04059
Peptidases_S8_Thermi - cd07484
Peptidases_S8_PCSK9_ - cd04077
Peptidase_S8 - pfam00082
Peptidases_S8_C5a_Pe - cd07475
Peptidases_S8_Fervid - cd07485
Peptidases_S8_12 - cd07480
Peptidases_S8_Kp43_p - cd04842
Peptidases_S8_Autotr - cd04848
Peptidases_S8_1 - cd07487
Peptidases_S8_subtil - cd07474
Peptidases_S8_Bacill - cd07481
Peptidases_S8_Subtil - cd07473
Peptidases_S8_Lantib - cd07482
Peptidases_S8_8 - cd07492
Peptidases_S8_Subtil - cd04847
Peptidases_S8_15 - cd07498
Peptidases_S8_6 - cd07490
Peptidases_S8_4 - cd05561
Peptidases_S8_Subtil - cd07477
Peptidases_S8_S53 - cd00306
Peptidases_S8_thiazo - cd07476
Peptidases_S8_13 - cd07496
Peptidases_S8_11 - cd04843
Peptidases_S8_9 - cd07493
Peptidases_S8_5 - cd07489


Swiss-Prot Protein: Q8NBP7
Identical to: NP_777596
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidases_S8_Subtilcd074835.3e-0635421
Peptidases_S8_Proteicd040597.6e-07144421
Peptidases_S8_Thermicd074845.3e-12150424
Peptidases_S8_PCSK9_cd040772.2e-109156421
Peptidases_S8_C5a_Pecd074756.4e-05169445
Peptidases_S8_Fervidcd074851.1e-08169419
Peptidases_S8_12cd074801.4e-09171439
Peptidases_S8_Kp43_pcd048422.6e-05172421
Peptidases_S8_Autotrcd048485.9e-09176420
Peptidases_S8_Subtilcd074731.5e-15177420
Peptidases_S8_Bacillcd074811.5e-10177420
Peptidases_S8_subtilcd074745.9e-10177427
Peptidases_S8_1cd074877.8e-18177421
Peptidases_S8_Lantibcd074821.9e-05179427
Peptidases_S8_8cd074921.9e-06179420
Peptidases_S8_S53cd003061.5e-48180418
Peptidases_S8_Subtilcd048473.5e-05180420
Peptidases_S8_4cd055613.9e-10180422
Peptidases_S8_Subtilcd074771e-16180418
Peptidases_S8_6cd074903e-09180420
Peptidases_S8_15cd074981.5e-11180418
Peptidases_S8_thiazocd074762.1e-06184439
Peptidases_S8_13cd074962.3e-10185418
Peptidases_S8_11cd048438.1e-07189420
Peptidases_S8_9cd074937e-05199417
Peptidases_S8_5cd074892.8e-06210432
Peptidase_S8pfam000821.3e-22165431
Inhibitor_I9pfam059226.3e-1376152

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058529Polymorphismp.ALA239ASPN/A
dbSNPrs28362263 Polymorphismp.ALA443THRN/A
Swiss-ProtVAR_058535Polymorphismp.ALA522THRN/A
dbSNPrs11583680 Polymorphismp.ALA53VALN/A
Swiss-ProtVAR_058521Polymorphismp.ARG93CYSN/A
Swiss-ProtVAR_058526Diseasep.ARG215HISHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_058530Diseasep.ARG357HISHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_017197Polymorphismp.ARG46LEUN/A
Swiss-ProtVAR_058527Diseasep.ARG218SERHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_025452Polymorphismp.ARG237TRPN/A
Swiss-ProtVAR_025456Polymorphismp.ARG469TRPN/A
Swiss-ProtVAR_058534Diseasep.ARG496TRPHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_058525Polymorphismp.ASN157LYSN/A
Swiss-ProtVAR_021337Polymorphismp.ASN425SERN/A
Swiss-ProtVAR_058524Diseasep.ASP129GLYHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_058531Diseasep.ASP374HISHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_058532Diseasep.ASP374TYRHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_058528Polymorphismp.GLN219GLUN/A
Swiss-ProtVAR_025459Polymorphismp.GLN554GLUN/A
Swiss-ProtVAR_021341Polymorphismp.GLN619PRON/A
Swiss-ProtVAR_025457Polymorphismp.GLU482GLYN/A
Swiss-ProtVAR_025451Polymorphismp.GLU57LYSN/A
Swiss-ProtVAR_058522Polymorphismp.GLY106ARGN/A
Swiss-ProtVAR_058533Polymorphismp.GLY452ASPN/A
dbSNPrs505151 Polymorphismp.GLY670GLUN/A
Swiss-ProtVAR_067282Polymorphismp.GLY394SERN/A
Swiss-ProtVAR_021340Polymorphismp.HIS553ARGN/A
Swiss-ProtVAR_025454Polymorphismp.HIS391ASNN/A
Swiss-ProtVAR_025455Polymorphismp.HIS417GLNN/A
Swiss-ProtVAR_025453Polymorphismp.LEU253PHEN/A
Swiss-ProtVAR_017200Diseasep.PHE216LEUHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_025458Polymorphismp.PHE515LEUN/A
Swiss-ProtVAR_058536Polymorphismp.PRO616LEUN/A
Swiss-ProtVAR_067351Polymorphismp.PRO174SERN/A
Swiss-ProtVAR_017199Diseasep.SER127ARGHypercholesterolemia, autosomal dominant, 3 (HCHOLA3)
Swiss-ProtVAR_058537Polymorphismp.SER668ARGN/A
Swiss-ProtVAR_058520Polymorphismp.THR77ILEN/A
Swiss-ProtVAR_058523Polymorphismp.VAL114ALAN/A
dbSNPrs562556 Polymorphismp.VAL474ILEN/A
OMIM607786.0006 Diseasep.ARG46LEULOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||1
OMIM607786.0003 Diseasep.ASP374TYRHYPERCHOLESTEROLEMIA, FAMILIAL, 3
OMIM607786.0005 Diseasep.CYS679TERLOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||1
OMIM607786.0002 Diseasep.PHE216LEUHYPERCHOLESTEROLEMIA, FAMILIAL, 3
OMIM607786.0001 Diseasep.SER127ARGHYPERCHOLESTEROLEMIA, FAMILIAL, 3
OMIM607786.0004 607786.0007 Diseasep.TYR142TERLOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS||1



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