2005, PrionDB.
This data was extracted from medline abstracts and full text papers (when available) in an automated manner.
| Protein | PRIO_HUMAN (PRNP) | Swiss-Prot Cross-reference table Family page |
| Family alignments |
Mammalian prion proteins Prion proteins (PRP, PRNP) |
| Mutation | Location | General numbering | Reference | |
|---|---|---|---|---|
| L9R | Not determined | Harris D et al., Br Med Bull 2003 | Medline | |
| K24A | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| K27A | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| W99F | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| W99F | Not determined | Apetri AC et al., J Biol Chem 2002 | Medline | |
| K101A | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| P102L | Not determined | Yamada M et al., Neurology 1999 | Medline | |
| P102L | Not determined | Zanusso G et al., J Biol Chem 1999 | Medline | |
| P102L | Not determined | Cardone F et al., Brain Res Bull 1999 | Medline | |
| P102L | Not determined | Mallucci GR et al., Brain 1999 | Medline | |
| P102L | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| P102L | Not determined | Petraroli R et al., J Neurosci Methods 2000 | Medline | |
| P102L | Not determined | Chen SG et al., Arch Virol Suppl 2000 | Medline | |
| P102L | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| P102L | Not determined | Wegner C et al., J Gen Virol 2002 | Medline | |
| P102L | Not determined | Kulczycki J et al., Folia Neuropathol 2001 | Medline | |
| P102L | Not determined | Mastrianni JA et al., Neurology 2001 | Medline | |
| P102L | Not determined | Spielhaupter C et al., J Biol Chem 2001 | Medline | |
| P102L | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| P102L | Not determined | Sasaki K et al., Acta Neuropathol (Berl) 2003 | Medline | |
| P102L | Not determined | Young K et al., Brain Res Mol Brain Res 1997 | Medline | |
| P102L | Not determined | Tanaka Y et al., J Neurol Neurosurg Psychiatry 1997 | Medline | |
| P102L | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| P102L | Not determined | Singh N et al., J Biol Chem 1997 | Medline | |
| P102L | Not determined | Hegde RS et al., Science 1998 | Medline | |
| P102L | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| P102L | Not determined | Yamada M et al., Neurology 1999 | Medline | |
| P102L | Not determined | De Michele G et al., Can J Neurol Sci 2003 | Medline | |
| P102L | Not determined | Fraser E et al., Neuropathol Appl Neurobiol 2003 | Medline | |
| P102L | Not determined | Inouye H et al., J Mol Biol 2000 | Medline | |
| P102L | Not determined | Zanusso G et al., J Biol Chem 2004 | Medline | |
| P102L | Not determined | Bianca M et al., Ann Genet 2003 | Medline | |
| P102L | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| P102L | Not determined | Ishida C et al., J Neurol Neurosurg Psychiatry 2005 | Medline | |
| P102L | Not determined | Tateishi J et al., Neurology 1996 | Medline | |
| P102L | Not determined | Cappai R et al., Biochemistry 1999 | Medline | |
| P102L | Not determined | Lorenz H et al., J Biol Chem 2002 | Medline | |
| P102L | Not determined | Mishra RS et al., J Biol Chem 2002 | Medline | |
| P102L | Not determined | Cohen E et al., EMBO J 2003 | Medline | |
| P102L | Not determined | Barron RM et al., Clin Lab Med 2003 | Medline | |
| P102L | Not determined | Tremblay P et al., J Virol 2004 | Medline | |
| P102L | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| P102L | Not determined | Chiesa R et al., Neuron 1998 | Medline | |
| K104A | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| P105L | Not determined | Yamada M et al., Neurology 1999 | Medline | |
| P105L | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| P105L | Not determined | Harris D et al., Br Med Bull 2003 | Medline | |
| P105L | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| P105L | Not determined | Spielhaupter C et al., J Biol Chem 2001 | Medline | |
| P105L | Not determined | Kovacs GG et al., J Neurol 2002 | Medline | |
| P105L | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| P105L | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| P105L | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| P105L | Not determined | Yamada M et al., Neurology 1999 | Medline | |
| P105L | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| P105L | Not determined | Ishida C et al., J Neurol Neurosurg Psychiatry 2005 | Medline | |
| P105L | Not determined | Tateishi J et al., Neurology 1996 | Medline | |
| P105L | Not determined | Cohen E et al., EMBO J 2003 | Medline | |
| P105T | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| M109S | Not determined | Jobling MF et al., Biochemistry 2001 | Medline | |
| H111A | Not determined | Jobling MF et al., Biochemistry 2001 | Medline | |
| H111S | Not determined | Jobling MF et al., Biochemistry 2001 | Medline | |
| M112S | Not determined | Jobling MF et al., Biochemistry 2001 | Medline | |
| A113V | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| A115V | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| A117A | Not determined | Soldevila M et al., Neurosci Lett 2004 | Medline | |
| A117V | Not determined | Mallucci GR et al., Brain 1999 | Medline | |
| A117V | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| A117V | Not determined | Brown D et al., Biochem J 2000 | Medline | |
| A117V | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| A117V | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| A117V | Not determined | Levy Y et al., Proteins 2001 | Medline | |
| A117V | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| A117V | Not determined | Kovacs GG et al., J Neurol Neurosurg Psychiatry 2001 | Medline | |
| A117V | Not determined | Hegde RS et al., Science 1998 | Medline | |
| A117V | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| A117V | Not determined | Heldt N et al., Clin Neuropathol 1998 | Medline | |
| A117V | Not determined | Fraser E et al., Neuropathol Appl Neurobiol 2003 | Medline | |
| A117V | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| A117V | Not determined | Tranchant C et al., J Neurol Neurosurg Psychiatry 1997 | Medline | |
| A117V | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| A117V | Not determined | Harris D et al., Br Med Bull 2003 | Medline | |
| A118V | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| M129M | Not determined | Kulczycki J et al., Folia Neuropathol 2001 | Medline | |
| M129M | Not determined | Jarius C et al., Acta Neuropathol (Berl) 2003 | Medline | |
| M129V | Not determined | Majtenyi C et al., Neurology 2000 | Medline | |
| M129V | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| M129V | Not determined | Mead S et al., Science 2003 | Medline | |
| M129V | Not determined | Erginel-Unaltuna N et al., Eur J Hum Genet 2001 | Medline | |
| M129V | Not determined | Teupser D et al., J Neurosci Methods 2002 | Medline | |
| M129V | Not determined | Jarius C et al., Acta Neuropathol (Berl) 2003 | Medline | |
| M129V | Not determined | Cereghetti GM et al., Biophys J 2003 | Medline | |
| M129V | Not determined | Yu SL et al., Eur J Hum Genet 2004 | Medline | |
| M129V | Not determined | Soldevila M et al., Neurosci Lett 2004 | Medline | |
| M129V | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| M129V | Not determined | Ivanova L et al., J Biol Chem 2001 | Medline | |
| G131V | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| G131V | Not determined | Panegyres PK et al., Arch Neurol 2001 | Medline | |
| G131V | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| G131V | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| I138M | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| G142S | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| G142S | Not determined | Mead S et al., Science 2003 | Medline | |
| D147N | Not determined | Ji HF et al., J Biomol Struct Dyn 2005 | Medline | |
| R148H | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| R148H | Not determined | Soldevila M et al., Neurosci Lett 2004 | Medline | |
| S170N | Not determined | Gossert AD et al., Proc Natl Acad Sci U S A 2005 | Medline | |
| N171S | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| N171S | Not determined | Mead S et al., Science 2003 | Medline | |
| N171S | Not determined | Berest V et al., Cell Mol Biol Lett 2003 | Medline | |
| N171S | Not determined | Kaneko K et al., Proc Natl Acad Sci U S A 1997 | Medline | |
| F175W | Not determined | Apetri AC et al., J Biol Chem 2002 | Medline | |
| D178N | Not determined | Almer G et al., Brain 1999 | Medline | |
| D178N | Not determined | Parchi P et al., Neurology 1999 | Medline | |
| D178N | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| D178N | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| D178N | Not determined | Laplanche JL et al., Brain 1999 | Medline | |
| D178N | Not determined | Harder A et al., Am J Med Genet 1999 | Medline | |
| D178N | Not determined | Tabernero C et al., J Neurol Neurosurg Psychiatry 2000 | Medline | |
| D178N | Not determined | Windl O et al., Hum Genet 1999 | Medline | |
| D178N | Not determined | Chen SG et al., Arch Virol Suppl 2000 | Medline | |
| D178N | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| D178N | Not determined | Wegner C et al., J Gen Virol 2002 | Medline | |
| D178N | Not determined | Dauvilliers Y et al., Neurology 2004 | Medline | |
| D178N | Not determined | Mastrianni JA et al., Neurology 2001 | Medline | |
| D178N | Not determined | el-Bastawissy E et al., J Mol Graph Model 2001 | Medline | |
| D178N | Not determined | Dagvadorj A et al., Ann Neurol 2002 | Medline | |
| D178N | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| D178N | Not determined | Bar KJ et al., Arch Neurol 2002 | Medline | |
| D178N | Not determined | Korth C et al., Proc Natl Acad Sci U S A 2003 | Medline | |
| D178N | Not determined | Gambetti P et al., Clin Lab Med 2003 | Medline | |
| D178N | Not determined | Petersen RB et al., J Biol Chem 1996 | Medline | |
| D178N | Not determined | Alonso DO et al., Proc Natl Acad Sci U S A 2001 | Medline | |
| D178N | Not determined | McLean CA et al., Neurology 1997 | Medline | |
| D178N | Not determined | Chen SG et al., Nat Med 1997 | Medline | |
| D178N | Not determined | Singh N et al., J Biol Chem 1997 | Medline | |
| D178N | Not determined | Rosenmann H et al., Acta Neurol Scand 1998 | Medline | |
| D178N | Not determined | Gambetti P et al., Brain Pathol 1998 | Medline | |
| D178N | Not determined | Johnson MD et al., Neurology 1998 | Medline | |
| D178N | Not determined | Roucou X et al., J Biol Chem 2003 | Medline | |
| D178N | Not determined | Capellari S et al., Am J Pathol 2000 | Medline | |
| D178N | Not determined | Cappai R et al., Biochemistry 1999 | Medline | |
| D178N | Not determined | Pocchiari M et al., Brain 2004 | Medline | |
| D178N | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| D178N | Not determined | Tremblay P et al., J Virol 2004 | Medline | |
| D178N | Not determined | Priola SA et al., J Biol Chem 1998 | Medline | |
| D178N | Not determined | Li A et al., J Biol Chem 2005 | Medline | |
| D178N | Not determined | Rodriguez-Martinez AB et al., Hum Genet 2005 | Medline | |
| D178N | Not determined | Daude N et al., J Biol Chem 1997 | Medline | |
| D178N | Not determined | Parchi P et al., Brain Pathol 1998 | Medline | |
| D178N | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| D178N | Not determined | Narwa R et al., Biochemistry 1999 | Medline | |
| D178N | Not determined | Ivanova L et al., J Biol Chem 2001 | Medline | |
| D178N | Not determined | Ma J et al., Proc Natl Acad Sci U S A 2001 | Medline | |
| D178N | Not determined | Lorenz H et al., J Biol Chem 2002 | Medline | |
| D178N | Not determined | Harris D et al., Br Med Bull 2003 | Medline | |
| D178N | Not determined | DeArmond SJ et al., Neuron 1997 | Medline | |
| D178N | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| C179A | Not determined | Capellari S et al., J Biol Chem 1999 | Medline | |
| C179A | Not determined | Maiti NR et al., J Biol Chem 2001 | Medline | |
| C179S | Not determined | Bosques CJ et al., Proc Natl Acad Sci U S A 2003 | Medline | |
| V180I | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| V180I | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| V180I | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| V180I | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| V180I | Not determined | Tateishi J et al., Neurology 1996 | Medline | |
| V180I | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| N181Q | Not determined | Capellari S et al., Am J Pathol 2000 | Medline | |
| T183A | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| T183A | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| T183A | Not determined | Harris D et al., Br Med Bull 2003 | Medline | |
| T183A | Not determined | Kovacs GG et al., J Neurol 2002 | Medline | |
| T183A | Not determined | Grasbon-Frodl E et al., Acta Neuropathol (Berl) 2004 | Medline | |
| T183A | Not determined | DeArmond SJ et al., Neuron 1997 | Medline | |
| T183A | Not determined | Wegner C et al., J Gen Virol 2002 | Medline | |
| T183A | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| H187R | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| H187R | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| H187R | Not determined | Cereghetti GM et al., Biophys J 2003 | Medline | |
| H187R | Not determined | Butefisch CM et al., Neurology 2000 | Medline | |
| H187R | Not determined | Gu Y et al., Brain Res Mol Brain Res 2004 | Medline | |
| T188K | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| T188K | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| T188K | Not determined | Lorenz H et al., J Biol Chem 2002 | Medline | |
| T188R | Not determined | Windl O et al., Hum Genet 1999 | Medline | |
| T188R | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| T188R | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| T188R | Not determined | Lorenz H et al., J Biol Chem 2002 | Medline | |
| E196K | Not determined | Peoc'h K et al., Hum Mutat 2000 | Medline | |
| E196K | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| E196K | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| F198S | Not determined | Mallucci GR et al., Brain 1999 | Medline | |
| F198S | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| F198S | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| F198S | Not determined | Daniels M et al., Eur J Biochem 2001 | Medline | |
| F198S | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| F198S | Not determined | Piccardo P et al., J Neuropathol Exp Neurol 1996 | Medline | |
| F198S | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| F198S | Not determined | Hegde RS et al., Science 1998 | Medline | |
| F198S | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| F198S | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| F198S | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| F198S | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| T199A | Not determined | Capellari S et al., Am J Pathol 2000 | Medline | |
| T199A | Not determined | DeArmond SJ et al., Neuron 1997 | Medline | |
| E200K | Not determined | Parchi P et al., Neurology 1999 | Medline | |
| E200K | Not determined | Cardone F et al., Brain Res Bull 1999 | Medline | |
| E200K | Not determined | Mallucci GR et al., Brain 1999 | Medline | |
| E200K | Not determined | Rosenmann H et al., Neurology 1999 | Medline | |
| E200K | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| E200K | Not determined | Laplanche JL et al., Brain 1999 | Medline | |
| E200K | Not determined | Simon ES et al., Ann Neurol 2000 | Medline | |
| E200K | Not determined | Mitrova E et al., Bratisl Lek Listy 1999 | Medline | |
| E200K | Not determined | Harris D et al., Br Med Bull 2003 | Medline | |
| E200K | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| E200K | Not determined | Rosenmann H et al., J Neurochem 2001 | Medline | |
| E200K | Not determined | Negro A et al., Mol Cell Neurosci 2001 | Medline | |
| E200K | Not determined | Capellari S et al., Neurology 2002 | Medline | |
| E200K | Not determined | Mahfoud R et al., J Biol Chem 2002 | Medline | |
| E200K | Not determined | Mastrianni JA et al., Neurology 2001 | Medline | |
| E200K | Not determined | Daniels M et al., Eur J Biochem 2001 | Medline | |
| E200K | Not determined | Corsaro A et al., Neurochem Int 2002 | Medline | |
| E200K | Not determined | Mitrova E et al., Acta Virol 2002 | Medline | |
| E200K | Not determined | Jarius C et al., Acta Neuropathol (Berl) 2003 | Medline | |
| E200K | Not determined | Thompson AJ et al., Biochim Biophys Acta 2001 | Medline | |
| E200K | Not determined | Gabizon R et al., Nat Med 1996 | Medline | |
| E200K | Not determined | Petersen RB et al., J Biol Chem 1996 | Medline | |
| E200K | Not determined | Antoine JC et al., Neurology 1996 | Medline | |
| E200K | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| E200K | Not determined | Meiner Z et al., Medicine (Baltimore) 1997 | Medline | |
| E200K | Not determined | Rosenmann H et al., Neurology 1997 | Medline | |
| E200K | Not determined | Miyakawa T et al., Neurol Res 1998 | Medline | |
| E200K | Not determined | Capellari S et al., Am J Pathol 2000 | Medline | |
| E200K | Not determined | Fraser E et al., Neuropathol Appl Neurobiol 2003 | Medline | |
| E200K | Not determined | Pocchiari M et al., Brain 2004 | Medline | |
| E200K | Not determined | Zanusso G et al., J Biol Chem 2004 | Medline | |
| E200K | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| E200K | Not determined | Goldman JS et al., Arch Neurol 2004 | Medline | |
| E200K | Not determined | Tremblay P et al., J Virol 2004 | Medline | |
| E200K | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| E200K | Not determined | Asante EA et al., Neurosci Lett 2004 | Medline | |
| E200K | Not determined | Priola SA et al., J Biol Chem 1998 | Medline | |
| E200K | Not determined | Prusiner S et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| E200K | Not determined | Ladogana A et al., Neurology 2005 | Medline | |
| E200K | Not determined | Tateishi J et al., Neurology 1996 | Medline | |
| E200K | Not determined | Narwa R et al., Biochemistry 1999 | Medline | |
| E200K | Not determined | Stewart RS et al., J Biol Chem 2001 | Medline | |
| E200K | Not determined | Ivanova L et al., J Biol Chem 2001 | Medline | |
| E200K | Not determined | Lorenz H et al., J Biol Chem 2002 | Medline | |
| E200K | Not determined | Wegner C et al., J Gen Virol 2002 | Medline | |
| E200K | Not determined | Atarashi R et al., J Biol Chem 2003 | Medline | |
| E200K | Not determined | Daude N et al., J Biol Chem 1997 | Medline | |
| E200K | Not determined | DeArmond SJ et al., Neuron 1997 | Medline | |
| E200K | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| D202N | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| D202N | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| D202N | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| D202N | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| D202N | Not determined | Gallo M et al., Int J Immunopathol Pharmacol 2005 | Medline | |
| V203I | Not determined | Peoc'h K et al., Hum Mutat 2000 | Medline | |
| V203I | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| V203I | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| V203I | Not determined | Mishra RS et al., J Alzheimers Dis 2003 | Medline | |
| V203I | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| M205V | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| M206L | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| R208H | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| R208H | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| R208H | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| R208H | Not determined | Roeber S et al., Acta Neuropathol (Berl) 2005 | Medline | |
| R208H | Not determined | Capellari S et al., Neurology 2005 | Medline | |
| R208H | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| V209L | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| V210I | Not determined | Vetrugno V et al., Neurosci Lett 1999 | Medline | |
| V210I | Not determined | Cardone F et al., Brain Res Bull 1999 | Medline | |
| V210I | Not determined | Mouillet-Richard S et al., J Neurol Sci 1999 | Medline | |
| V210I | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| V210I | Not determined | Petraroli R et al., J Neurosci Methods 2000 | Medline | |
| V210I | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| V210I | Not determined | Capellari S et al., Neurology 2002 | Medline | |
| V210I | Not determined | Mastrianni JA et al., Neurology 2001 | Medline | |
| V210I | Not determined | Thompson AJ et al., Biochim Biophys Acta 2001 | Medline | |
| V210I | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| V210I | Not determined | Sauer H et al., Free Radic Biol Med 2003 | Medline | |
| V210I | Not determined | Pocchiari M et al., Brain 2004 | Medline | |
| V210I | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| V210I | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| V210I | Not determined | Ladogana A et al., Neurology 2005 | Medline | |
| V210I | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| E211Q | Not determined | Peoc'h K et al., Hum Mutat 2000 | Medline | |
| E211Q | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| E211Q | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| E211Q | Not determined | Ladogana A et al., Am J Med Genet 2001 | Medline | |
| E211Q | Not determined | Mishra RS et al., J Alzheimers Dis 2003 | Medline | |
| E211Q | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| Q212P | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| Q212P | Not determined | Gu Y et al., Neurobiol Dis 2003 | Medline | |
| Q212P | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| Q212P | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| Q212P | Not determined | Mishra RS et al., J Alzheimers Dis 2003 | Medline | |
| Q212P | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| C214A | Not determined | Capellari S et al., J Biol Chem 1999 | Medline | |
| C214A | Not determined | Maiti NR et al., J Biol Chem 2001 | Medline | |
| Q217R | Not determined | Zanusso G et al., J Biol Chem 1999 | Medline | |
| Q217R | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| Q217R | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| Q217R | Not determined | Ivanova L et al., J Biol Chem 2001 | Medline | |
| Q217R | Not determined | Yedidia Y et al., EMBO J 2001 | Medline | |
| Q217R | Not determined | Ma J et al., Proc Natl Acad Sci U S A 2001 | Medline | |
| Q217R | Not determined | Piccardo P et al., Am J Pathol 2001 | Medline | |
| Q217R | Not determined | Tagliavini F et al., J Biol Chem 2001 | Medline | |
| Q217R | Not determined | Singh N et al., J Biol Chem 1997 | Medline | |
| Q217R | Not determined | Parchi P et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| Q217R | Not determined | Jin T et al., J Biol Chem 2000 | Medline | |
| Q217R | Not determined | Capellari S et al., Am J Pathol 2000 | Medline | |
| Q217R | Not determined | Roucou X et al., J Biol Chem 2003 | Medline | |
| Q217R | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| Q217R | Not determined | De Simone A et al., Proc Natl Acad Sci U S A 2005 | Medline | |
| Q217R | Not determined | Riek R et al., Proc Natl Acad Sci U S A 1998 | Medline | |
| Y218W | Not determined | Apetri AC et al., J Biol Chem 2002 | Medline | |
| Y218W | Not determined | Apetri AC et al., J Biol Chem 2004 | Medline | |
| E219K | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| E219K | Not determined | Mead S et al., Science 2003 | Medline | |
| E219K | Not determined | Perrier V et al., Proc Natl Acad Sci U S A 2002 | Medline | |
| E219K | Not determined | Tanaka Y et al., J Neurol Neurosurg Psychiatry 1997 | Medline | |
| E219K | Not determined | Crozet C et al., J Cell Sci 2004 | Medline | |
| E219K | Not determined | Soldevila M et al., Neurosci Lett 2004 | Medline | |
| E219K | Not determined | Ishida C et al., J Neurol Neurosurg Psychiatry 2005 | Medline | |
| M232R | Not determined | Zuegg J et al., Biochemistry 1999 | Medline | |
| M232R | Not determined | Mastrangelo P et al., FEBS Lett 2002 | Medline | |
| M232R | Not determined | Koide T et al., Neurology 2002 | Medline | |
| M232R | Not determined | Tateishi J et al., Neurology 1996 | Medline | |
| M232R | Not determined | Hoque MZ et al., Acta Neuropathol (Berl) 1996 | Medline | |
| M232R | Not determined | Gambetti P et al., Br Med Bull 2003 | Medline | |
| P238S | Not determined | Windl O et al., Hum Genet 1999 | Medline |
cmbi.ru.nl), 22-Aug-2005