Таблица F9m198-328
Таблица
Мутации гена фактора lX (F IX) (198-328 кодон)
missense мутации (продолжение)
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Экзон:Кодон:Замена нук-:Замена амино- : Литература
: : леотидов : кислот :
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7 198 TTG-TGG leu-trp Saad
S.,1994
7 198 TTG-TCG leu-ser Ketterling R.P.,1993
7 206 TGT-TCT cys-ser Taylor
S.A.M.,1990
Saad
S.,1994
7 206 TGT-TAT cys-tyr Bottema
C.D.K.,1991b
Taylor
S.A.M.,1990
7 206 TGT-CGT cys-arg Knobloch O.,1993
Saad
S.,1994
7 207 GGA-AGA gly-arg David
D.,1993
Saad
S.,1994
7 207 GGA-GAA gly-asp Giannelli F.,1996
7 207 GGA-GAA gly-glu Lin
S.W.,1993
7 208 GGC-GAC gly-asp Saad
S.,1994
7 211 GTT-TTT val-phe Chen
S.H.,1991
7 212 AAT-AAG asn-lys Giannelli F.,1996
7 215 TGG-CGG trp-arg Bottema
C.D.K.,1990c
7 215 TGG-GGG trp-gly Giannelli F.,1996
7 215 TGG-TGC trp-cys Lin
S.W.,1993
7 216 ATT-ACT ile-thr Green P.M.,1991b
Koeberl D.D.,1990a
Chen
S.H.,1991
7 216 ATT-ATG ile-met Bottema
C.D.K.,1991a
7 218 ACT-ATT thr-ile Giannelli F.,1996
7 219 GCT-ACT ala-thr Giannelli F.,1996
7 220 GCC-GTC ala-val Koeberl D.D.,1990a
Poon
M.C.,1993
7 222 TGT-AGT cys-ser Saad
S.,1994
7 222 TGT-TGG cys-trp Koeberl
D.D.,1989
Bottema
C.D.K.,1989a
7 - T - C - Koeberl D.D.,1990a
Chen
S.H.,1991
7 227 GTT-GTC val-val Koeberl
D.D.,1989
Chen
S.H.,1991
7 233 GCA-ACA ala-thr Green P.M.,1991b
Tam
B.M.,1991
Koeberl
D.D.,1989
Chen
S.H.,1991
Tartary
M.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 234 GGT-GCT gly-ala Giannelli F.,1996
8 237 AAT-GAT asn-asp Giannelli F.,1996
8 238 ATT-AAT ile-asn Giannelli F.,1996
8 245 GAG-AAG glu-lys Giannelli F.,1996
8 245 GAG-GTG glu-val Ludwig
M.,1992b
Koeberl D.D.,1990a
8 248 CGA-GGA arg-gly Giannelli F.,1996
8 248 CGA-CAA arg-gln Chen
S.H.,1989b
Chen
S.H.,1991
Koeberl D.D.,1990a
Ludwig
M.,1992b
Bottema
C.D.K.,1991a
Koeberl D.D.,1990a
Chen
S.H.,1991a
Thompson A.R.,1992a
David
D.,1993
Bottema C.D.K.,1993
Ghanem
N.,1993
Poon
M.C.,1993
Saad
S.,1994
8 251 ATT-AAT ile-asn Saad
S.,1994
8 252 CGA-CTA arg-leu Saad
S.,1994
8 256 CAC-CGC his-arg Giannelli F.,1996
8 257 CAC-TAC his-tyr Montandon A.J.,1990a
8 259 TAC-TGC tyr-cys Bottema
C.D.K.,1991b
Ketterling R.P.,1993
8 260 AAT-AGT asn-ser Koeberl
D.D.,1989
8 260 AAT-ACT asn-thr Bottema
C.D.K.,1989a
8 268 CAT-CGT his-arg Saad
S.,1994
8 268 CAT-CAG his-gln Tartary
M.,1993
8 269 GAC-AAC asp-asn Knobloch O.,1993
8 269 GAC-GTC asp-val Giannelli F.,1996
8 269 GAC-GGC asp-gly Ghanem
N.,1993
Saad
S.,1994
8 269 GAC-GAA asp-glu Ketterling R.P.,1993
8 270 ATT-TTT ile-phe Gostout
B.,1993
Saad
S.,1994
8 270 ATT-ACT ile-thr Bottema
C.D.K.,1991a
8 271 GCC-GTC ala-val Koeberl D.D.,1990a
Saad
S.,1994
8 272 CTT-CGT leu-arg Bottema
C.D.K.,1991b
8 272 CTT-CAT leu-his Giannelli F.,1996
8 272 CTT-TTT leu-phe Driscoll M.C.,1996
8 273 CTG-CCG leu-pro Giannelli F.,1996
8 275 CTG-CCG leu-pro Bottema
C.D.K.,1991a
Saad
S.,1994
8 275 CTG-CAG leu-gln Giannelli F.,1996
8 279 TTA-ATA leu-ile Giannelli F.,1996
8 279 TTA-TCA leu-ser Ghanem
N.,1993
8 284 TAC-TGC tyr-cys Giannelli F.,1996
8 287 CCT-CTT pro-leu Chen
S.H.,1991
8 287 CCT-CAT pro-his Giannelli F.,1996
8 288 ATT-ATG ile-met Bottema
C.D.K.,1991a
8 289 TGC-TTC cys-phe Gostout
B.,1993
Saad
S.,1994
8 291 GCT-CCT ala-pro Winship
P.R.,1991
8 291 GCT-ACT ala-thr Montandon A.J.,1989
Green
P.M.,1992a
Saad
S.,1994
8 295 TAC-TGC tyr-cys Ghanem
N.,1993
8 296 ACG-GCA thr-ala Giannelli F.,1996
8 296 ACG-AAG thr-lys Giannelli F.,1996
8 296 ACG-ATG thr-met Green P.M.,1991b
Green P.M.,1990
Bottema
C.D.K.,1989a
Ketterling R.P.,1991a
Ketterling R.P.,1991b
Chen
S.H.,1991
Winship
P.R.,1991
Tarnover A.,1991
Koeberl
D.D.,1989
Koeberl D.D.,1990a
Thompson A.R.,1992a
Thompson A.R.,1992c
Green
P.M.,1992
Nielsen
L.N.,1992
Bottema C.D.K.,1993
Knobloch O.,1993
Poon
M.C.,1993
Tartary
M.,1993
Saad
S.,1994
8 297 AAC-AAT asn-asn Bottema
C.D.K.,1991
8 303 GGA-GTA gly-val Rowley
G.,1995
8 305 GGC-GAC gly-asp Green P.M.,1991b
8 307 GTA-GCA val-ala Bottema
C.D.K.,1989a
Thompson A.R.,1992c
Chen
S.H.,1991
8 307 GTA-GGA val-gly Green P.M.,1991b
8 308 AGT-AAT ser-asn Tartary
M.,1993
Saad
S.,1994
8 308 AGT-AGA ser-arg Giannelli F.,1996
8 308 AGT-ACT ser-arg Giannelli F.,1994
8 309 GGC-AGC gly-ser Winship
P.R.,1991
8 309 GGC-GTC gly-val Thompson A.R.,1989
8 309 GGC-GAC gly-asp Ghanem
N.,1993
Gostout
B.,1993
8 310 TGG-CGG trp-arg Giannelli F.,1996
8 310 TGG-TTG trp-leu Giannelli F.,1996
8 310 TGG-TGC trp-cys Ketterling R.P.,1993
Knobloch O.,1993
8 310 TGG-TGT trp-cys Giannelli F.,1996
8 311 GGA-AGA gly-arg Koeberl
D.D.,1989
Bottema
C.D.K.,1989a
Bottema
C.D.K.,1991b
8 311 GGA-GAA gly-glu Miyata
T.,1991
8 311 GGA-GTA gly-val Saad
S.,1994
8 313 GTC-GGC val-gly Saad
S.,1994
8 313 GTC-GAC val-asp Kuze
K.,1992
8 316 AAA-GAA lys-glu Giannelli F.,1996
8 317 GGG-CGG gly-arg Giannelli F.,1996
8 317 GGG-GAG gly-glu Saad
S.,1994
8 320 GCT-GAT ala-asp Koeberl D.D.,1990a
Saad
S.,1994
8 320 GCT-GTT ala-val Ghanem
N.,1993
8 324 CAG-GAG gln-glu Giannelli F.,1996
8 324 CAG-CCG gln-pro Lin
S.W.,1993
8 328 GTT-TTT val-phe Winship P.R.,1990
Knobloch O.,1993
8 328 GTT-ATT val-ile Poort
S.R.,1990
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