Табл. W mut
1) missense мутации
-------------------------------------------------------------------------------
Кодон :Замена нук-:Замена амино-: Литература
:
:деотидов : кислот :
:
-------------------------------------------------------------------------------
377 TGG - TGT trp - cys Schneppenheim R.,1996a
427 ATT - AAT ile - asn Mazurier C.
528 AAT - AGT asn - ser Armitage H.,1979
Uno
H.,1994
Gaucher
C.,1996
550 GGG - AGG gly - arg Schneppenheim R.,1995
623 TGC - TGG cys - trp Gaucher
C.,1994
782 CGG - TGG arg - trp Kroner
P.A.,1991a
785 GGG - GAG gly - glu Gu
J.,1997
787 GAG - AAG glu - lys Schneppenheim R.,1995
788 TGT - CGT cys - arg Peake
788 TGT - TAT cys - tyr Jorieux
S.,1997a
Meyer
D.,1997
791 ACG - ATG thr - met Wise
R.J.,1991
Tuley
E.A.,1991
Gaucher
C.,1991a
Nesbitt
I.M.,1999
795 TAT - TGT tyr - cys Schneppenheim
800 ATG - GTG met - val Hilbert
L.,1999
816 CGG - TGG arg - trp Gaucher
C.,1991b
Mazurier C.,1992
Mazurier
C.,1994
Jorieux
S.,1992
816 CGG - CAG arg - gln John Owen
817 CAT - CAA his - gln Kroner
P.A.,1991a
854 CGG - CAG arg - gln Kroner
P.A.,1991b
Gaucher
C.,1991b
Mazurier C.,1992
Lavergne
J.M.,1992
Peerlinck K.,1992
Eikenboom J.C.,1993
Schneppenheim R.,1996b
Nesbitt
I.M.,1999
858 TGC - TTC cys - phe Jorieux
S.,1997a
Meyer
D.,1997
879 GAC - AAC asp - asn Jorieux
S.,1996
1053 CAG - CAT gln - his Hilbert
L.,1998
1060 TGT - CGT cys - arg Jorieux
S.,1997b
1101 TGC - CGC cys - arg
1101 TGC - TGG cys - trp
1107 TAT - TGT tyr - cys Gaucher
C.,1997
1120 TGG - TCG trp - ser Gaucher
C.,1997
1130 TGC - TTC cys - phe Eikenboom J.C.,1996
1149 TGT - TCT cys - arg Eikenboom J.C.,1996
1156 ACG - ATG thr - met Holmberg
Casana
1157 TGT - TTT cys - phe
1171 GAG - CAG glu - gln Gaucher
C.,1997
1196 TGT - CGT cys - arg
1205 CGT - CTT arg - leu Gaucher
C.,1997
de
Romeuf C.,1997
1205 CGT - CAT arg - his Veyradier A.,2001
Schneppenheim R.,2000
1229 GTT - GGT val - gly Eikenboom J.C.,1998
1231 AAC - ACC asn - thr Eikenboom J.C.,1998
1234 TGT - TGG cys - trp
1266 CCG - CTG pro - leu Eikenboom J.C.,1993
Holmberg L.,1993
1268 CAC - GAC his - asp Rabinowitz I.,1993
1272 TGC - GGC cys - gly Meyer
D.,1997
1272 TGC - CGC cys - arg Meyer
1276 CTG - CCG leu - pro Meyer
D.,1997
1279 GTC - ATC val - ile Lavergne J.M.,1999
Eikenboom J.C.,1993
1282 CTG - CGG leu - arg
1285 TCC - TTC ser - phe
1295 CTG - CCG leu - pro
1302 GAC - GGC asp - gly Lavergne J.M.,1999
1306 CGG - TGG arg - trp Cooney K.A.,1991
Cooney
K.A.,1992
Lillicrap D.,1991
Randi
A.M.,1991b
Murray
E.W.,1991
Sugiura
I.,1991
Holmberg L.,1991
Pietu
G.,1992
Donner
M.,1992
Casana
P.,1998
1306 CGG - CAG arg - gln Hilbert
L.,1996a
1308 CGC - TGC arg - cys Cooney K.A.,1991
Randi
A.M.,1991a
Donner
M.,1991
Hagiwara T.,1996
Casana
P.,1998
1308 CGC - CAC arg - his Meyer
D.,1997
1308 CGC - CCC arg - pro Hilbert
L.,1996a
1309 ATC - GTC ile - val
1313 TGG - TGC trp - cys Ware
J.,1991
1314 GTC - TTC val - phe Lavergne J.M.,1991
Ribba
A.S.,1994
1314 GTC - CTC val - leu Holmberg L.,1991
1314 GTC - GAC val - asp Casana
1315 CGC - TGC arg - cys Casana
P.,1997
Casana
P.,1998
Meyer
D.,1997
1316 GTG - ATG val - met Pietu
G.,1992
Lillicrap D.,1991
Cooney K.A.,1991
Randi
A.M.,1991a
Murray
E.W.,1992
Eikenboom J.C.,1994
Moll
S.,1988
Casana
P.,1998
1324 GGC - AGC gly - ser Rabinowitz I.,1992
1324 GGC - GCC gly - ala Meyer
D.,1997
Hilbert
L.,1997
1337 CCG - CTG pro - leu Kroner
P.A.,1992
Casana
P.,1998
1341 CGG - TGG arg - trp Casana
P.,1998
1341 CGG - CAG arg - gln Lillicrap D.,1991
Piao
Y.C.,1993
Cooney K.A.,1991
Murray
E.W.,1991
Randi
A.M.,1991b
Randi
A.M.,1992
Liu
X.,1992
1341 CGG - CTG arg - leu Hilbert
L.,1996a
1341 CGG - CCG arg - pro Liu
X.,1992
1359 GAG - AAG glu - lys Meyer
D.,1997
1362 AAA - ACA lys - thr
1369 TTC - ATC phe - ile Mancuso
D.J.,1991a
1374 CGC - TGC arg - cys Hilbert
L.,1995b
1374 CGC - CAC arg - his Castaman G.,1995
Hilbert
L.,1995b
1374 CGC - CTC arg - leu Meyer
D.,1997
1379 CGC - TGC arg - cys Casana
1383 CTC - CCC leu - pro Sadler
1383 CTC - CGC leu - arg
1399 CGC - TGC arg - cys
1421 AAC - AAG asn - lys
1425 ATC - TTC ile - phe Meyer
D.,1997
1437 GCC - ACC ala - thr Casana
1458 TGT - TAT cys - tyr Meyer
D.,1997
1460 CTT - GTT leu - val Hilbert
L.,1994
1461 GCC - GTC ala - val Hilbert
L.,1995a
1461 GCC - GAC ala - asp Robert Montgomery
1462 CCT - GCT pro - ala
1467 CCT - TCT pro - ser Robert Montgomery
1503 CTG - CCG leu - pro
1505 GGA - GAG gly - glu Lyons
S.E.,1992
Inbal
A.,1992
1505 GGA - CGA gly - arg Lyons
S.E.,1992
1506 TCG - TTG ser - leu Lyons
S.E.,1992
Sugiura I.,1992
Inbal
A.,1992
1514 TTC - TGC phe - cys Gaucher C.,1993
1539 GTG - GAG val - glu
1540 CTG - CCG leu - pro Lyons
S.E.,1994
1543 TCC - TTC ser - phe Mazurier
1556 CAG - CGG gln - arg Meyer
D.,1997
1562 CTG - CCG leu - pro Sugiura I.,1992
1579 GGG - AGG gly - arg Robert Montgomery
1580 CTG - CCG leu - pro Hilbert L.,1996b
1583 CGG - TGG arg - trp
1597 CGG - TGG arg - trp Ginsburg D.,1989
Bowen
D.J.,1990
Lyons
S.E.,1992
Inbal
A.,1992
Sugiura I.,1992
Winter
P.C.,1992
Hagiwara T.,1996
1597 CGG - GGG arg - gly
1597 CGG - CTG arg - leu
1597 CGG - CAG arg - gln Inbal
A.,1993
Hagiwara T.,1996
1604 GTC - TTC val - phe Meyer
D.,1997
1607 GTC - GAC val - asp Ginsburg D.,1989
Lyons
S.E.,1992
1609 GGA - AGA gly - arg Hagiwara T.,1996
1613 TCT - CCT ser - pro Chang
H.Y.,1989
1614 GAT - GGT asp - gly
1628 ATT - ACT ile - thr Pietu
G.,1992
Lyons
S.E.,1994
Iannuzzi M.C.,1991
1629 GGA - AGA gly - arg Casana
P.,1999
1638 GAG - AAG glu - lys Lavergne J.M.,1991
Christophe O.,1994
Ribba
A.S.,1994
1639 CTG - CCG leu - pro Meyer
D.,1997
1648 CCT - TCT pro - ser Pietu
G.,1992
1657 CTC - ATC leu - ile Enayat
M.S.,2000
1665 GTG - GAG val - glu Inbal
A.,1993
1672 GGA - AGA gly - arg Hagiwara T.,1996
1674 GGG - AGG gly - arg Inbal
A.,1993
Donner
M.,1993
2063 CCA - TCA pro - ser Peake
2362 TGC - TTC cys - phe Bertina
Eikenboom
2546 AAC - TAC asn - tyr Eikenboom J.C.,1991
2671 TGC - TAC cys - tyr Eikenboom J.C.,1998
2754 TGT - TGG cys - trp Schneppenheim R.,2001
2773 TGC - CGC cys - arg Schneppenheim R.,1996a
2776 CCG - TTG pro - leu Mazurier
2801 GCC - GAC ala - asp
------------------------------------------------------------------------
2) nonsense мутации
-------------------------------------------------------------------------
Кодон :Замена нук-:Замена амино-: Литература :
:деотидов : кислот : :
-------------------------------------------------------------------------
324 CGA - TGA arg - ter Schneppenheim R.,1994
365 CGA - TGA arg - ter Bahnak
B.R.,1991
1311 CAG - TAG gln - ter Casana
1659 CGA - TGA arg - ter Zhang
Z.P.,1992a
Zhang
Z.P.,1992b
Hagiwara
T.,1996
1853 CGA - TGA arg - ter Zhang
Z.P.,1992c
2535 CGA - TGA arg - ter Eikenboom J.C.,1991
Eikenboom J.C.,1992
Schneppenheim R.,1994
Zhang
Z.P.,1992c
-------------------------------------------------------------------------
3) сплайсинговые мутации
--------------------------------------------------------------------------
Интрон : Донор/ :Локализация:Замена нук-: Литература
:
:акцепторн.: : леотидов :
:
--------------------------------------------------------------------------
25 ds + 1 G - A Nesbitt I.M.,1999
43 ds + 1 G - A Zhang
Z.P.,1994a
50 ds + 3 G - T Mertes
G.,1994
--------------------------------------------------------------------------
4) делеции
------------------------------------------------------------------------
Локализация:Кол-во нук-: Делетированные : Литература :
(кодон) : леотидов : нуклеотиды : :
------------------------------------------------------------------------
707 2 CT Gaucher
C.,1994
810 1 C Zhang
Z.P.,1992b
Schneppenheim R.,1994
838 1 G Kroner
P.A.,1996
1405 3 AAA Schneppenheim R.,2000
1483 1 G Eikenboom J.C.L.,1998
1544 1 G Schneppenheim R.,1994
экзоны 26-34 Bernardi
F.,1990
целый ген Schneppenheim R.,1994
целый ген Ngo
K.Y.,1988
целый ген Shelton-Inloes B.B.,1987
------------------------------------------------------------------------
5) инсерции
------------------------------------------------------------------------
Локализация:Кол-во нук-:Инсерцированные: Литература :
(нуклеотид): леотидов : нуклеотиды : :
------------------------------------------------------------------------
1212 6 AATCCC Holmberg
L.,1998
1352 105 Gaucher
C.,1995
1907 1 T Zhang
Z.P.,1994a
2122 3 GCG Gaucher
C.,1994
4160 3 ATG Ribba
A.S.,1991
5221 1 C Zhang
Z.P.,1994a
7375 1 C Eikenboom
J.C.,1998
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