Табл. S m
Идентифицированные мутации в гене протеина S
1) мутации в промоторной области
------------------------------------------------------------------------
Локализация: Замена нук- : Литература :
: леотидов : :
------------------------------------------------------------------------
143 C - G Espinosa-Parrilla
Y.,2000c
------------------------------------------------------------------------
2) missense мутации
------------------------------------------------------------------------
Кодон: Замена нук- : Замена амино- : Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
- 27 CTC-CAC leu-his Espinosa-Parrilla Y.,2000c
- 24 GTG-GAG val-glu Rezende
- 2 CGT-CCT arg-leu Gandrille
S.,1995
- 1 CGT-CAT arg-his Gandrille
S.,1995
9 AAA-GAA lys-glu Simmonds
R.E.,1996
Fujimura
H.,1998
26 GAA-GCA glu-ala Hermida
J.,1999
Gandrille
S.,1995
Simmonds
R.E.,1996
27 GCC-GAC ala-asp Borgel D.
31 TTT-TGT phe-cys Gandrille
S.,1995
35 CCG-CTG pro-leu Gandrille
S.,1995
37 ACG-ATG thr-met Gandrille
S.,1995
46 GTT-CTT val-leu Yamazaki
T.,1997
Fujimura
H.,1998
49 CGC-CAC arg-his Giri
T.K.,1999
Gandrille
S.,1995
49 CGC-TGC arg-cys Rezende
54 GGG-GAG gly-glu Simmonds
R.E.,1996
54 GGG-AGG gly-arg Tsuda
57 ACT-AGT thr-ser Espinosa-Parrilla Y.,2000b
Espinosa-Parrilla Y.,2000c
70 AGA-AGC arg-ser Giri
T.K.,1999
Borgel
D.,1996a
103 ACT-AAT thr-asn Giri
T.K.,2000
Gandrille
S.,1995
108 TGG-TGT trp-cys Lind
113 TGT-TTT cys-phe Borgel D.
116 GAC-GGC asp-gly Borgel
D.,1996a
120 TGC-GGC cys-gly Borgel
D.,1996a
145 TGT-TAT cys-tyr Simmonds
R.E.,1996
155 AAG-GAG lys-glu Yamazaki
T.,1993
Shigekiyo
T.,1993
Hayashi
T.,1994
187 TGC-AGC cys-ser Borgel D.
192 AGA-AAA arg-lys Gandrille
S.,1995
Borgel
D.,1994
Espinosa-Parrilla Y.,2000a
200 TGT-TCT cys-ser Simmonds
R.E.,1996
204 GAT-GGT asp-gly Gandrille
S.,1995
206 TGC-CGC cys-arg Borgel D.
208 GAG-AAG glu-lys Gandrille
S.,1995
217 AAT-AGT asn-ser Formstone
C.J.,1995
Marchetti
G.,1993
224 TGC-TGG cys-trp Gandrille
S.,1995
224 TGC-CGC cys-arg Gandrille
S.,1995
259 CTT-CCT leu-pro Duchemin
J.,1996
283 TCA-CCA ser-pro Simmonds
R.E.,1996
292 GAT-AAT asp-asn Borgel D.
295 GGC-AGC gly-ser Fujimura
H.,1998
295 GGC-GTC gly-val Zoller
B.,1995
Simmonds
R.E.,1997
310 CTG-CCG leu-pro Mustafa
S.,1995
316 GGA-AGA gly-arg Borgel D.
323 AAG-GAG lys-glu Borgel
D.,1996a
335 GAT-AAT asp-asn Gandrille
S.,1995
340 GGT-GTT gly-val Gomez
E.,1995
340 GGT-GAT gly-asp Simmonds
R.E.,1996
342 TGG-CGG trp-arg Lind
344 ATG-GTG met-val Gandrille
S.,1995
349 GAA-AAA glu-lys Espinosa-Parrilla Y.,1999
405 CTA-CCA leu-pro Borgel
D.,1996a
Messiaen
I.,1997
408 TGT-AGT cys-ser Simmonds
R.E.,1996
434 TGC-CGC cys-arg Borgel
D.,1996a
441 GGC-TGC gly-cys Espinosa-Parrilla Y.,2000b
Espinosa-Parrilla Y.,1999
444 TAT-TGT tyr-cys Espinosa-Parrilla Y.,2000b
Espinosa-Parrilla Y.,1999
460 TCC-GCC ser-ala Borgel
D.,1996a
460 TCC-CCC ser-pro Bertina
R.M.,1990
467 GTA-GGA val-gly Gomez
E.,1995
469 GTG-ATG val-met Borgel
D.,1996a
474 CGT-TGT arg-cys Borgel
D.,1996a
Yamazaki
T.,1996
474 arg-pro Hermida
J.,1999
477 ACG-ATG thr-met Borgel D.
484 GCC-CCC ala-pro Borgel D.,1996
Borgel
D.,1996b
485 TTG-TCG leu-ser Lind
491 ACA-GCA thr-ala Borgel
D.,1996a
511 TTA-TCA leu-ser Mustafa
S.,1995
518 ATA-ATG ile-met Espinosa-Parrilla Y.,2000b
Espinosa-Parrilla Y.,1999
Espinosa-Parrilla Y.,2000c
520 CGG-GGG arg-gly Espinosa-Parrilla Y.,2000b
Espinosa-Parrilla Y.,1999
527 TGT-TAT cys-tyr Borgel D.,1996 Borgel D.,1996a
534 CTG-CGG leu-arg Borgel D.,1996 Borgel D.,1996a
543 CTG-CAG leu-gln Mustafa
S.,1995
547 ACA-GCA thr-ala Borgel D.
570 ATG-ACG met-thr Mustafa
S.,1995
Formstone
C.j.,1996
575 GCC-CCC ala-pro Formstone
C.J.,1995
597 gly-asp Hermida
J.,1999
598 TGC-TTC cys-phe Burstorff
T.C.,1997
599 ATG-ACG met-thr Espinosa-Parrilla Y.,2000c
603 ATT-AGT ile-ser Li
M.,1996
623 CAC-CCC his-pro Rezende
624 TCA-TTA ser-leu Borgel D.
625 TGT-CGT cys-arg Duchemin
J.,1996
Borgel
D.,1996a
Simmonds
R.E.,1996
626 CCA-TCA pro-leu Espinosa-Parrilla Y.,2000b
Espinosa-Parrilla Y.,2000c
------------------------------------------------------------------------
3) nonsesnse мутации
------------------------------------------------------------------------
Кодон: Замена нук- : Замена амино- : Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
- 12 CAA-TAA gln-ter Borgel D.
19 GAA-TAA glu-ter Espinosa-Parrilla Y.,2000c
22 TGC-TGA cys-ter Gandrille
S.,1995
62 TCA-TGA ser-ter Okamoto
Y.,1996
96 CGA-TGA gly-ter Espinosa-Parrilla Y.,2000c
108 TGC-TGA trp-ter Espinosa-Parrilla Y.,1999
193 TAT-TAA tyr-ter Borgel
D.,1996a
197 TCA-TAA ser-ter Borgel D.
217 CAA-TAG asn-ter Espinosa-Parrilla Y.,1999
238 CAG-TAG gln-ter Cooper D.N.,1993
293 TCA-TGA ser-ter Espinosa-Parrilla Y.,1999
342 TGG-TAG trp-ter Borgel
D.,1996a
368 AAA-TAA lys-ter Simmonds
R.E.,1996
410 CGA-TGA arg-ter Pung-Amritt
P.,1999
Hermida
J.,1999
Borgel
D.,1996a
Mustafa
S.,1995
Andersen
B.D.,1996
Andersen
B.D.,1999
Espinosa-Parrilla Y.,2000c
Pegelow
C.H.,1992
Mahasandana
C.,1996
448 GGA-TGA gly-ter Formstone
C.J.,1995
465 TGG-TGA trp-ter Burstorff
T.C.,1997
Espinosa-Parrilla Y.,2000c
522 CAG-TAG gln-ter Yamazaki
T.,1995
Borgel
D.,1996a
595 TAT-TAA tyr-ter Simmonds
R.E.,1996
636 TAA-TAT ter-tyr Reitsma
P.H.,1994a
------------------------------------------------------------------------
4) silent мутации
------------------------------------------------------------------------
Кодон: Замена нук- : Замена амино- : Литература :
: леотидов : кислот : :
------------------------------------------------------------------------
30 CTG-CTC leu-leu Espinosa-Parrilla Y.,2000c
35 CCG-CCA pro-pro Simmonds
R.E.,1996
303 ATC-ATT ile-ile Gandrille
S.,1995
418 GGA-GGG gly-gly Borgel D.
626 CCA-CCG pro-pro Diepstraten
C.M.,1991
------------------------------------------------------------------------
5) сплайсинговые мутации
------------------------------------------------------------------------
Интрон: Донор :Локализация:Замена нук-: Лмтература :
: акцептор : : леотидов : :
------------------------------------------------------------------------
A + 4 A - G Li
M.,1996
B - 2 A - G Mustafa
S.,1997a
D + 1 G - A Formstone C.J.,1995
Simmonds
R.E.,1996
E + 5 G - A Leroy-Matheron C.,1998
Gandrille S.,1995
J + 1 G - A Formstone C.J.,1995
J + 3 A - C Simmonds
R.E.,1996
J + 5 G - A Reitsma
P.H.,1994a
Mustafa
S.,1995
Mustafa
S.,1997a
Espinosa-Parrilla Y.,1999
J G - A Hermida
J.,1999
J - 1 G - T Espinosa-Parrilla Y.,1999
K - 9 A - G Beauchamp N.J.,1998
N - 1 G - T Yamazaki
T.,1997
-----------------------------------------------------------------------
6) инсерции
------------------------------------------------------------------------
Локализация: Кол-во нук-: Последствия : Литература :
кодон : леотидов : : :
------------------------------------------------------------------------
- 25 1 (T) fs ter-4 Reitsma P.H.,1994a
145-147 1 (A) fs ter-155 Pung-Amritt P.,1999
Mahasandana C.,1990
Mahasandana C.,1996
Pung-Amritt P.,1999
186 1 (T) Duchemin J.,1996
265 1 (T) fs ter 287 Burstorff T.C.,1997
Интрон K + 8 Beauchamp N.J.,1998
экзон 12
431 2 (AA) Rezende
539 2 (TC) Pung-Amritt P.,1999
565 1 (T) fs ter 596 Gomez E.,1995
578 1 (C) fs ter 596 Gomez E.,1995
588 1 (C) fs ter 596 Borgel D.
------------------------------------------------------------------------
7) делеции
------------------------------------------------------------------------
Локализация : Кол-во нук-:Последствия: Литература :
: леотидов : : :
------------------------------------------------------------------------
- 34 1 (С) fs ter-24 Rezende
- 12 7 (AACAGGC) fs ter 43 Duchemin J.,1996
21 2 (TG) fs ter 23 Espinosa-Parrilla Y.,1999
43 2 (AA) fs ter 45 Gomez E.,1994
44 4 (CTTA) fs ter 44 Borgel D.,1996a
Duchemin J.,1996
45-46 1 (G) Espinosa-Parrilla Y.,1999
67 1 (C) fs ter 69 Borgel D.,1996a
82 1 (T) fs ter 91 Gandrille S.,1995
Borgel D.,1994
122 1 (T) fs ter 126 Simmonds R.E.,1996
203-204 1 Bernardi
220 1 (G) fs ter 250 Formstone C.J.,1995
261 1 (T) fs ter 272 Gomez E.,1995
267 1 (G) fs ter 272 Gomez E.,1995
383 2 (AA) Espinosa-Parrilla Y.,2000c
Интрон K + экзон 11 Borgel D.,1996a
449 1 (A) fs ter 454 Andersen B.D.,1996
536 1 (T) fs ter 551 Espinosa-Parrilla Y.,2000c
547 2 (AC) fs ter 549 Formstone C.J.,1995
Formstone C.j.,1996
Интрон N + экзон 15 8 (CTAATATT) Borgel D.
632 4 (AAAG) fs ter 642 Lind
633 2 (AA) fs ter 656 Mustafa S.,1995
Интрон L,M + экзон 13 15,3 kb Schmidel D.K.,1991
Экзон 7-12 Ploos van Amstel H.K.,1989
Holmes Z.R.,1996
------------------------------------------------------------------------
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