Табл. C m
Идентифицированные мутации в гене протеина C
1) мутации в промоторной области
------------------------------------------------------------------------
Номер : Замена нук- : Литература :
нуклеотида : леотидов : :
------------------------------------------------------------------------
- 1533 A - G Greengard J.S.,1994
- 1528 T - A Poort
S.R.,1993
- 1515 T - C Berg
L.P.,1993
- 1511 C - T Greengard J.S.,1994
- 1480 G - A Soria J.M.,1994
- 17 G - C Soria J.M.,1994
- 14 T - C Berg
L.P.,1994
------------------------------------------------------------------------
2) missense мутации
------------------------------------------------------------------------
Экзон: Кодон :Замена нук-:Замена амино-: Литература :
: : леотидов : кислот : :
------------------------------------------------------------------------
2 - 42 ATG-ACG met-thr Zheng
Y.Z.,1994
2 - 40 CAG-CCG gln-pro Gandrille
S.,1994
2 - 34 CTG-CCG leu-pro Gandrille
S.,1994
2 - 29 TGG-GGG trp-gly Poort
S.R.,1993
3 - 17 GTG-ATG val-met Long
G.L.,1994
3 - 11 CGT-TGT arg-cys Ireland
H.,1993
3 - 5 CGG-TGG arg-trp Gandrille
S.,1993d
3 - 3 CGC-TGC arg-cys Gandrille
S.,1994
3 - 1 CGT-TGT arg-cys Gandrille
S.,1993d
Gandrille
S.,1992
Girolami
A.,1993
3 - 1 CGT-CAT arg-his Gandrille
S.,1991a
Lind
B.,1993b
3 9 CGT-TGT arg-cys Sala
N.,1991
3 12 AGC-TGC ser-cys Tait R.C.,1994
3 12 CGG-TGG arg-trp Matsuda
M.,1988
3 15 CGG-TGG arg-trp Lind
B.,1993b
Gandrille
S.,1991b
3 15 CGG-GGG arg-gly Mimuro
J.,1993
3 15 CGG-CAG arg-gln Gandrille
S.,1991b
3 20 GAG-GCG glu-ala Bovill
E.G.,1992
3 25 GAG-CAG glu-gln Long
G.L.,1994
3 25 GAG-AAG glu-lys Ido
M.,1993
3 34 GTG-ATG val-met Bovill
E.G.,1992
4 40 TTC-TTA phe-leu Gandrille
S.,1994
5 47 GGT-TGT gly-cys Grundy C.B.,1994
5 54 CCC-TCT pro-ser Soria
J.M.,1994a
5 66 CAC-AAC his-asn Tsay
W.,1991
5 67 GGC-CGC gly-arg Poort S.R.,1994
5 72 GGC-CGC gly-arg Poort S.R.,1994
5 72 GGC-TGC gly-cys Witt I.,1994
5 76 TTC-CTC phe-leu Reitsma
P.H.,1991
5 78 TGC-GGC cys-gly Tait R.С.,1994
5 87 CGC-CAC arg-his Sala
N.,1993
6 103 GGC-CGC gly-arg Greengard J.S.,1994
6 105 TGC-TAC cys-tyr Reitsma
P.H.,1991
6 107 CAT-CCT his-pro Hasstedt S.J.,1998
6 118 TGT-TAT cys-tyr Long
G.L.,1994
6 119 AGC-AGG ser-arg Reitsma
P.H.,1991
6 124 TAC-TGC tyr-cys Estelles
A.,1984
6 136 GCA-CCA ala-pro Dreyfus
M.,1991
Long
G.L.,1994
7 139 TTC-CTC phe-leu Tait R.C.,1994
7 141 TGT-CGT cys-arg Reitsma
P.H.,1991
7 141 TGT-TAT cys-tyr Witt
I.,1994a
7 147 CGG-TGG arg-trp Tsay
W.,1991
7 152 CGC-TGC arg-cys Gandrille
S.,1990
7 168 CCG-CTG pro-leu Conard
J.,1992
Gandrille
S.,1991b
7 169 CGG-TGG arg-trp Foster
D.C.,1985
Matsuda
M.,1988
Grundy
C.,1989
Ireland
H.,1993
Marchetti
G.,1993
Witt
I.,1994a
Lensing
A.W.A.,1999
Alhenc-Gelas M.,2000
7 169 CGG-CAG arg-gln Poort
S.R.,1993
7 178 CGG-TGG arg-trp Reitsma
P.H.,1991
Sala
N.,1991
7 178 CGG-CAG arg-gln Grundy
C.B.,1992a
Gandrille
S.,1990
Gandrille
S.,1991b
Gandrille
S.,1993d
Poort
S.R.,1993
Sala
N.,1991
Soria J.M.,1992
Soria J.M.,1996
7 184 CAG-CAC gln-his Soria
J.M.,1994b
Lind
B.,1993a
8 197 GGG-GAG gly-glu Gandrille
S.,1994
8 201 ATC-ACC ile-thr Greengard J.S.,1994
8 202 CAC-TAC his-tyr Poort
S.R.,1993
8 211 CAC-CAA his-gln Poort
S.R.,1993
Witt
I.,1994a
8 223 CTT-TTT leu-phe Reitsma
P.H.,1991
Gandrille
S.,1993a
Gandrille
S.,1991b
9 225 GAG-CAG glu-gln Witt I.,1994
9 229 CGG-TGG arg-trp Sala
N.,1991
9 229 CGG-CAG arg-gln Gandrille
S.,1991c
Grundy
C.B.,1992a
Gaussem
P.,1994
9 230 CGC-TGC arg-cys Broekmans A.W.,1983
Reitsma
P.H.,1991
Bertina R.M.,1982
9 232 GAG-AAG glu-lys Gandrille
S.,1994
9 247 CCC-CTC pro-leu Grundy
C.B.,1992a
9 252 AGC-AAC ser-asn Tsay
W.,1991
Gandrille
S.,1991c
Gaussem
P.,1994
9 256 AAT-GAT asn-asp Poort S.R.,1994
9 259 GCA-GTA ala-val Grundy C.B.,1991b
9 267 GCC-ACC ala-thr Conard
J.,1992
9 270 TCG-CCG ser-pro Gandrille
S.,1993e
9 270 TCG-TTG ser-leu Poort S.R.,1994
9 279 CCG-TCG pro-ser Tait R.C.,1994
9 279 CCG-CTG pro-leu Poort
S.R.,1993
9 282 GGC-AGC gly-ser Doig R.G.,1994
9 282 GGC-CGC gly-arg Lind
B.,1993b
9 286 CGC-TGC arg-cys Poort
S.R.,1993
Lind
B.,1993b
9 286 GGC-CAC arg-his Long
G.L.,1994
9 292 GGC-AGC gly-ser Reitsma
P.H.,1991
Yamamoto
K.,1992a
9 293 CAG-CAC gln-his Gandrille
S.,1994
9 297 GTG-ATG val-met Millar D.S.,1993
9 298 ACG-ATG thr-met Bovill E.G.,1989
Tomczak
J.A.,1994
Ireland
H.,1993
9 298 ACG-AAG thr-lys Gandrille
S.,1994
9 301 GGC-AGC gly-ser Conard
J.,1992
9 301 GGC-GTC gly-val Tait R.C.,1994
9 314 CGC-TGC arg-cys Witt
I.,1994a
9 318 CTC-TTC leu-phe Gandrille
S.,1994
9 323 ATT-TTT ile-phe Gandrille
S.,1994
9 325 GTG-GCG val-ala Witt
I.,1994a
Witt I.,1994b
9 327 CCG-CTG pro-leu Lind
B.,1993b
Zheng
Y.Z.,1994
9 342 AAC-AGC asn-ser Witt I.,1994
9 343 ATG-ATA met-ile Poort
S.R.,1993
9 346 GCG-ACG ala-thr Poort
S.R.,1993
9 346 GCG-GTG ala-val Poort
S.R.,1993
9 350 GGG-AGG gly-arg Zheng
Y.Z.,1994
9 352 CGG-TGG arg-trp Rintelen
C.,2001
9 359 GAC-AAC asp-asn Zheng
Y.Z.,1994
9 364 ATG-ATA met-ile Yamamoto
K.,1992a
9 371 ACC-GCC thr-ala Tait R.C.,1994
9 376 GGC-GAC gly-asp Sugahara
Y.,1992
380 Levo A.,2000
9 381 GGT-AGT gly-ser Marchetti
G.,1993
9 382 GAG-AAG glu-lys Koster T.,1994
9 383 GGC-TGC gly-cys Sala
N.,1993
Sala
N.,1987
9 384 TGT-TAT cys-tyr Greengard J.S.,1994
9 385 GGG-CGG gly-arg Miyata T.,1994
9 391 GGC-AGC gly-ser Sala
N.,1993
9 393 TAC-AAC tyr-asn Witt I.,1994
9 394 ACC-CCC thr-pro Soria J.M.,1994
9 394 ACC-AAC thr-asn Ireland
H.,1993
9 398 CGC-CAC arg-his Tait R.C.,1994
9 399 TAC-TCC tyr-his Zheng
Y.Z.,1994
9 402 TGG-TGC trp-cys Romeo
G.,1987
Gonzalez
R.,1985
9 403 ATC-CTC ile-leu Gandrille
S.,1994
9 403 ATC-AT ile-met Reitsma
P.H.,1991
Gandrille
S.,1993a
Gandrille
S.,1993b
------------------------------------------------------------------------
3) nonsense мутации
------------------------------------------------------------------------
Экзон : Кодон :Замена нук-:Замена амино-: Литература :
: : леотидов : кислот : :
------------------------------------------------------------------------
2 - 29 TGG-TAG trp-ter Griffin J.H.,1981
5 49 CAG-TAG gln-ter Soria
J.M.,1994a
5 92 GAG-TAG glu-ter Poort S.R.,1995
6 105 TGC-TAC cys-ter Reitsma P.H.,1991
6 132 CAG-TAG gln-ter Reitsma P.H.,1991
Estelles A.,1984
7 145 TGG-TAG trp-ter Greengard J.S.,1994
7 157 CGA-TGA arg-ter Gandrille S.,1990
Gandrille S.,1991b
9 306 CGA-TGA arg-ter Romeo
G.,1987
Reitsma P.H.,1991
------------------------------------------------------------------------
4) silent мутации
------------------------------------------------------------------------
Экзон : Кодон :Замена нук-:Замена амино-: Литература :
: : леотидов : кислот : :
------------------------------------------------------------------------
7 178 CGG-CGA arg-arg Reitsma
P.H.,1991
7 184 CAG-CAA gln-gln Poort S.R.,1994
------------------------------------------------------------------------
5) сплайсинговые мутации
------------------------------------------------------------------------
Номер:Интрон:Замена:Донор/акцеп-: Литература :
нукл.: : нукл.:тор.участок : :
------------------------------------------------------------------------
- 93 A C - T Tomczak
J.A.,1994
- 26 A C - T as Tait R.C.,1994
74 B A - G ds Gandrille S.,1994
1317 B C - T 3' конец Long
G.L.,1994
1503 C A - G Soria J.M.,1994
3052 D T - G Tomczak
J.A.,1994
3076 D G - A as Tait R.C.,1994
3222 E G - A ds Reitsma
P.H.,1991
3222 E G - A ds Gandrille S.,1994
3222 E G - T ds Reitsma
P.H.,1991
3222 E G - C ds Reitsma
P.H.,1991
3318 E A - G as Soria J.M.,1993a
6274 G C - T ds Tsuda S.,1991
Soria J.M.,1992
Soria J.M.,1993b
Sala
N.,1987
7054 G - A Soria J.M.,1993b
7257 H G - T ds Gandrille S.,1994
------------------------------------------------------------------------
6) делеции
------------------------------------------------------------------------
Локализация:Кол-во нук-:Делеция амино-: Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
1380-1386 7 - arg,lys Sala
N.,1991
fs ter-16
3156-3170 15 -gly,ile,gly, Lind
B.,1993a
ser,phe
3172-3189 18 -ser,cys,asp, Tsuda S.,1991
cys,arg,ser Miletich J.P.,1987
3173-3190 18 -cys,asp,cys, Tsuda S.,1991
arg,ser,gly Miletich J.P.,1987
3448-3452 5 -pro,ala Sugahara Y.,1992
6153 1 fs,ter-115 Grundy C.,1991a
8485/6 или 2 fs,258ile-arg, Gandrille S.,1994
8486/7 ter-329
8617 1 fs,-301gly, Bernardi F.,1992
ter-335
8678-8680 или 3 -321 ile Gandrille S.,1993c
8677-8679
8678-8680 3 -321ile,lys-met Sala N.,1991 8801 1 fs,362gly-gly, Greengard J.S.,1994 ter-381 8857 1 fs,381gly-val, Yamamoto K.,1992b; ter-462 Tokunaga F.,1992; Ido M.,1993 ------------------------------------------------------------------------
7) инсерции
------------------------------------------------------------------------
Локализация :Кол-во нук-: Последствия : Литература :
: леотидов : : :
------------------------------------------------------------------------
3363/4 1 (+C) fs,107his-pro, Bovill E.G.,1989 ;
ter-119 Tomczak J.A.,1994
6139 2 (+TT) fs,143arg-leu, Soria
J.M.,1992
ter-156
7158 1 (+A) fs,191lys-lys, Poort S.R.,1994
ter-207
8432 6(+CTGGAC) 239(+lys,asp) Poort
S.R.,1993
8505 3(+TGG) 264(+val) Koster T.,1994
8506 4(+TGGC) fs,264,ala-ala, Koster T.,1994
ter-331
8796/7/8/9- 1(+G) fs,363pro-ala Gandrille S.,1994
8801/2
------------------------------------------------------------------------
8) делеции + инсерции
------------------------------------------------------------------------
Локализация:Делетир.нук-:Инсецир.нук-: Литература :
: леотиды : леотиды : :
------------------------------------------------------------------------
3351 - CGGC + A Berg
L.P.,1993
------------------------------------------------------------------------
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