Таблица F9m330-412
Таблица F9m330-412
Мутации гена фактора lX (F IX)
missense мутации (продолжение)
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Экзон:Кодон:Замена нук-:Замена амино- : Литература
: : леотидов : кислот :
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8 330 CTT-CCT leu-pro Saad
S.,1994
8 331 GTT-GCT val-ala Winship P.R.,1991
8 331 GTT-GAT val-asp Giannelli F.,1996
8 332 GAC-TAC asp-tyr Knobloch O.,1993
8 333 CGA-GGA arg-gly Bottema
C.D.K.,1990c
Bottema
C.D.K.,1991b
8 333 CGA-CTA arg-leu Bottema
C.D.K.,1991a
8 333 CGA-CAA arg-gln Tsang
T.C.,1988
Poort
S.R.,1989a
Wang
N.S.,1990a
Ludwig
M.,1992a
Green
P.M.,1992a
Green P.M.,1990
Green
P.M.,1989
Chen
S.H.,1991
Thompson A.R.,1992a
Bottema
C.D.K.,1991a
Bottema C.D.K.,1993
Ghanem
N.,1993
Knobloch O.,1993
Tartary
M.,1993
Poon
M.C.,1993
David
D.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 334 GCC-ACC ala-thr Rowley
G.,1995
8 334 GCC-GAC ala-asp Chan
V.,1991
8 336 TGT-CGT cys-arg Green
P.M.,1989
Chen
S.H.,1991
Saad
S.,1994
8 336 TGT-TAT cys-tyr Green P.M.,1991b
8 337 CTT-ATT leu-ile Fraser
B.M.,1992
8 337 CTT-TTT leu-phe Gostout
B.,1993
8 337 CTT-CCT leu-pro Giannelli F.,1996
8 338 CGA-CCA arg-pro Ketterling R.P.,1993
8 338 CGA-CAA arg-gln Zhang
M.,1989
8 340 ACA-AGA thr-arg Ketterling R.P.,1993
8 341 AAG-GAG lys-glu Heit
J.A.,1998
8 344 ATC-TTC ile-phe Giannelli F.,1996
8 344 ATC-ACC ile-thr Costa
J.M.,2000
8 347 AAC-ATC asn-ile Bottema
C.D.K.,1991a
8 348 ATG-GTG met-val Chen
S.H.,1991
8 348 ATG-AAG met-lys Giannelli F.,1996
8 348 ATG-ATA met-ile Bottema
C.D.K.,1991a
Ketterling R.P.,1993
Tartary
M.,1993
8 349 TTC-CTC phe-leu Giannelli F.,1996
8 350 TGT-TCT cys-ser Taylor
S.A.M.,1991
8 350 TGT-AGT cys-ser Giannelli F.,1994
8 350 TGT-TAT cys-tyr Saad
S.,1994
8 350 TGT-TTT cys-phe Tartary
M.,1993
8 351 GCT-CCT ala-pro Chan
V.,1998
8 352 GGC-GAC gly-asp Giannelli F.,1996
8 352 GGC-GCC gly-ala Giannelli F.,1996
8 356 GGA-AGA gly-arg Saad
S.,1994
8 359 GAT-GGT asp-gly Giannelli F.,1996
8 360 TCA-TTA ser-leu Chen
S.H.,1991
Ghanem
N.,1993
Saad
S.,1994
8 361 TGT-CGT cys-arg Giannelli F.,1996
8 361 TGT-GGT cys-gly Giannelli F.,1996
8 361 TGT-TAT cys-tyr Giannelli F.,1996
8 361 TGT-TCT cys-ser Giannelli F.,1996
8 361 TGT-AGT cys-ser Giannelli F.,1994
8 363 GGA-AGA gly-arg High
K.A.,1993
8 363 GGA-GTA gly-val Bajaj
S.P.,1990
8 363 GGA-GCA gly-ala Thompson A.R.,1992a
8 363 GGA-GAA gly-glu Saad
S.,1994
8 364 GAT-CAT asp-his Ludwig
M.,1992b
Bottema
C.D.K.,1990c
8 364 GAT-AAT asp-asn Saad
S.,1994
8 364 GAT-GTT asp-val Chen
S.H.,1991
8 364 GAT-GAC asp-asp Ludwig
M.,1992b
8 365 TA-GG ser-gly Ludwig
M.,1988
Ludwig
M.,1992b
8 365 AGT-GGT ser-gly Ludwig
M.,1992b
8 365 AGT-ATT ser-ile Ludwig
M.,1992b
8 365 AGT-AGA ser-arg Koeberl D.D.,1990a
8 365 AGT-AGG ser-arg Giannelli F.,1996
8 365 AGT-AAT ser-asn Giannelli F.,1996
8 366 GGG-GAG gly-glu Bottema
C.D.K.,1991a
Ghanem
N.,1993
8 367 GGA-AGA gly-arg Chen
S.H.,1991
Ghanem
N.,1993
8 367 GGA-GAA gly-glu Giannelli F.,1996
8 368 CCC-ACC pro-thr Bertina
R.M.,1990
Bottema
C.D.K.,1990c
8 368 CCC-CTC pro-leu Bottema
C.D.K.,1991b
Nielsen
L.N.,1992
Saad
S.,1994
8 369 CAT-AAT his-asn Giannelli F.,1996
8 369 CAT-CGT his-arg Bottema
C.D.K.,1991c
8 369 CAT-CAA his-gln Giannelli F.,1996
8 373 GTG-GAG val-glu Aguilar-Martinez P.,1994a
8 376 ACC-AAC thr-asn Green P.M.,1991b
8 378 TTC-CTC phe-leu Chen
S.H.,1991
8 378 TTC-GTC phe-val Caglayan S.H.,1997
8 379 TTA-TTC leu-phe Tam
B.M.,1991
8 380 ACT-CCT thr-pro David
D.,1993
8 380 ACT-AGT thr-ser Chan
V.,1991
8 380 ACT-ATT thr-ile Giannelli F.,1996
8 380 ACT-AAT thr-asn Giannelli F.,1996
8 384 AGC-ATC ser-ile Giannelli F.,1996
8 385 TGG-CGG trp-arg Giannelli F.,1996
8 385 TGG-AGG trp-arg Giannelli F.,1996
8 385 TGG-TGT trp-cys Saad
S.,1994
8 386 GGT-AGT gly-ser Giannelli F.,1996
8 386 GGT-GAT gly-asp Kuze
K.,1992
8 386 GGT-GCT gly-ala Saad
S.,1994
8 386 GGT-GTT gly-val Heit
J.A.,1998
8 387 GAA-GGA glu-gly Bottema
C.D.K.,1991a
8 388 GAG-GGG glu-gly Giannelli F.,1996
8 389 TGT-GGT cys-gly Giannelli F.,1996
8 389 TGT-TAT cys-tyr Tartary
M.,1993
Saad
S.,1994
8 390 GCA-TCA ala-ser Giannelli F.,1996
8 390 GCA-ACA ala-thr Gostout
B.,1993
Tartary
M.,1993
8 390 GCA-GTA ala-val Spitzer
S.G.,1988
Tarnower A.,1991
Sugimoto M.,1988
Nishimura H.,1990
Saad
S.,1994
8 390 GCA-GAA ala-glu Wang
N.S.,1990a
Chen
S.H.,1991a
Saad
S.,1994
8 394 AAA-AAC lys-asn Giannelli F.,1996
8 395 TAT-CAT tyr-his Giannelli F.,1996
8 395 TAT-TGT tyr-cys Saad
S.,1994
8 396 GGA-CGA gly-arg Attree
O.,1989
Vidaud
M.,1988
Ghanem
N.,1993
8 396 GGA-GTA gly-val Saad
S.,1994
8 396 GGA-GCA gly-ala Giannelli F.,1994
8 397 ATA-ACA ile-thr Ware
J.,1988
Bottema
C.D.K.,1989a
Spitzer
S.G.,1990a
Bottema
C.D.K.,1990b
Geddes
V.A.,1989
Attree
O.,1989
Koeberl
D.D.,1989
Ketterling R.P.,1991b
Chen
S.H.,1991
Thompson A.R.,1990
Thompson A.R.,1992a
Poon
M.C.,1993
Sarkar
G.,1991
8 398 TAT-TCT tyr-ser Saad
S.,1994
8 399 ACC-ATC thr-ile Giannelli F.,1996
8 402 TCC-TTC ser-phe Koeberl D.D.,1990a
8 403 CGG-TGG arg-trp Giannelli F.,1996
8 403 CGG-CAG arg-gln Poon
M.C.,1993
Saad
S.,1994
Aquilar-Martinez P.,1994b
8 404 TAT-CAT tyr-his Giannelli F.,1996
8 404 TAT-TGT tyr-cys Giannelli F.,1996
8 405 GTC-TTC val-phe Thompson A.R.,1992a
8 407 TGG-CGG trp-arg Koeberl
D.D.,1989
Bottema
C.D.K.,1989a
Bottema
C.D.K.,1991a
Ketterling R.P.,1993
8 408 ATT-ACT ile-thr Giannelli F.,1994
8 412 ACA-AAA thr-lys Bottema
C.D.K.,1991a
Ketterling R.P.,1993
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