Табл. PSEN1m-продолжение 1

МУТАЦИИ ГЕНА ПРЕСЕНИЛИНА 1 (PSEN1)

1) missense мутаци ------------------------------------------------------------------------ Экзон : Кодон : Замена : Замена : Литература

: :нуклеотидов:аминокислот: ------------------------------------------------------------------------

7 184 A - C glu-asp Yasuda M.,1997 ;

Beck J.A.,2002 ;

Janssen J.C.,2003

7 206 G - A gly-ser Rogaeva E.A.,2001

7 206 G - C gly-ala Rogaeva E.A.,2001 ;

Athan E.S.,2001

7 206 G - T gly-val Goldman J.S.,2002

7 209 G - A gly-arg Sugiyama N.,1999

7 209 G - A gly-glu Rogaeva E.A.,2001

7 209 G - T gly-val Poorkaj P.,1998

7 213 A - C ile-leu Rogaeva E.A.,2001

7 213 A - T ile-phe Zekanowski C.,2003

7 213 T - C ile-thr Kamino K.,1996

7 217 G - A gly-asp Miravalle L.,2002 ;

7 219 C - T leu-phe Terreni L.,2000

7 219 T - C leu-pro Smith M.J.,1999

7 222 A - G gln-arg Rogaeva E.A.,2001

7 222 G - C gln-his Miklossy J.,2003

7 226 T - G leu-arg Coleman P.,2004

7 229 A - T ile-phe Beck J.A.,2002 ;

Janssen J.C.,2003

7 231 G - A ala-thr Campion D.,1995 ;

Campion D.,1999 ;

Rogaeva E.A.,2001

7 231 C - T ala-val Cruts M.,1998b

7 233 A - C met-leu Aldudo J.,1999b ;

Rogaeva E.A.,2001

7 233 A - G met-val Houlden H.,2001

7 233 T - C met-thr Kwok J.B.,1997 ;

Campion D.,1999

7 235 C - G leu-val Beck J.A.,2002 ;

Janssen J.C.,2003

7 235 T - C leu-pro Campion D.,1996 ;

Campion D.,1996 ;

Rogaeva E.A.,2001

7 237 T - A phe-ile Sodeyama N.,2001

7 237 T - C phe-leu Beck J.A.,2002 ;

Janssen J.C.,2003

7 246 C - A ala-glu Sherrington R.,1995 ;

Kowalska A.,2003 ;

Kowalska A.,2004a ;

Kowalska A.,2004b

7 250 T - G leu-val Furuya H.,2003

7 250 T - C leu-ser Hutton M.,1996 ;

Harvey P.J.,1998

7 256 A - C tyr-ser Miklossy J.,2003

8 260 C - T ala-val Rogaev E.I.,1995 ;

Poorkaj P.,1998 ;

Beck J.A.,2002 ;

Janssen J.C.,2003

8 261 G - T val-phe Farlow M.R.,2000 ;

Rogaeva E.A.,2001 ;

Miravalle L.,2002

8 262 G - C leu-phe Forsell C.,1997

8 263 T - C cys-arg Wasco W.,1995

8 263 G - T cys-phe Beck J.A.,2002 ;

Janssen J.C.,2003

8 264 C - T pro-leu Campion D.,1995 ;

Wasco W.,1995 ;

Kwok J.B.,1997 ;

Poorkaj P.,1998 ;

Campion D.,1999 ;

Jacquemont M.L.,2002 ;

Miravalle L.,2002

8 267 C - T pro-ser Clark R.F.,1995b ;

Hutton M.,1996 ;

Palmer M.S.,1999

8 267 C - T pro-leu Kowalska A.,2003 ;

Kowalska A.,2004a ;

Kowalska A.,2004b

8 269 C - G arg-gly Perez-Tur J.,1996

8 269 G - A arg-his Gomez-Isla T.,1997 ;

Beck J.A.,2002 ;

Janssen J.C.,2003

8 271 C - G leu-val Kwok J.B.,2003

8 272 T - C val-ala Jimenez-Escrig A.,2002 ;

Jimenez-Escrig A.,2004

8 273 A - C glu-ala Kamimura K.,1998

8 274 C - G thr-arg Rogaeva E.A.,2001

8 278 G - A arg-lys Giliberto L.,2002 ;

8 278 G - C arg-thr Kwok J.B.,1997

8 278 G - T arg-ile Godbolt A.K.,2004

8 280 A - C glu-ala Clark R.F.,1995b ;

Tanahashi H.,1996 ;

Kwok J.B.,1997 ;

Lendon C.L.,1997 ;

Jacquier M.,2000 ;

8 280 A - G glu-gly Clark R.F.,1995b ;

Hutton M.,1996 ;

O'Riordan S.,2002

8 282 C - G leu-val Dermaut B.,2001

8 282 T - G leu-arg Aldudo J.,1998 ;

Aldudo J.,1999b

8 284 C - T pro-leu Tabira T.,2002

8 285 C - T ala-val Rogaev E.I.,1995 ;

8 286 C - G leu-val Sherrington R.,1995 ;

Chapman J.,1995

9 318 A - G glu-gly Sandbrink R.,1996 ;

Cruts M.,1998b ;

Aldudo J.,1998 ;

Mattila K.M.,1998 ;

Dermaut B.,1999 ;

Helisalmi S.,2000 10 354 C - T thr-ile Rogaeva E.A.,2001 10 358 G - A arg-gln Rogaeva E.A.,2001 10 365 C - A ser-tyr Rogaeva E.A.,2001 ------------------------------------------------------------------------ продолжение таблицы см. ( Таблица PSEN1m-продолжение 2 )

Смотрите также:

Табл. PSEN1m