Linked mutations

CBS MUTATION DATABASE

Mutation database

Linked mutations - CBS database

Allele ID	Linked mutation	Gene NT change	cDNA NT change	Protein change	Patient cell line	Comments	References
4	306 G>C; [K102N]	3600 C>G	233 C>G	P78R	1873	Sib of 1875	de Franchis et al., 1994
11	233 C>G; [P78R]	3673 G>C	306 G>C	K102N	1873	Sib of 1875	de Franchis et al., 1994
10	IVS4-31del 29; [del ex 5]	3671 A>C 6643 del29	304 A>C; IVS4-29del129	K102Q; del EX5	3149		Kozich et al., 1997b
260	304 A>C; [K102Q]	6643del29	IVS4-31del 29	del ex 5	3149		Kozich et al., 1997b
326	430G>A;[E144K]	6510 G>A	463 G>A	A155T	3177		Janosik et al., 2001
327	463G>A;[A155T]	5929 G>A	430 G>A	E144K	3177		Janosik et al., 2001
47	430G>A;[E144K]	6510 G>A	463 G>A	A155T	403, 3178	Sib of 404	Janosik et al., 2001
317	463G>A;[A155T]	5929 G>A	430 G>A	E144K	403, 3178	Sib of 404	Janosik et al., 2001
304	430G>A;[E144K]	6510 G>A	463 G>A	A155T	404	Sib of 403	Janosik et al., 2001
318	463G>A;[A155T]	5929 G>A	430 G>A	E144K	404	Sib of 403	Janosik et al., 2001
267	IVS7+1 G>A [828ins104, 737del92]	13000del99	IVS11+39del99	n.d.	405 ,3166		Janosik et al., 2001
264	IVS11+39del99 [n.d.]	8297 G>A	IVS7+1 G>A	828ins104, 737del92	405, 3166		Janosik et al., 2001
32	393 G>C; [E131D]	5873 G>A	374 G>A	R125Q	578		Marble et al.,1994
297	374 G>A; [R125Q]	5892 G>C	393 G>C	E131D	578		Marble et al.,1994
439	1316 G>A;[R439Q]	5929 G>A	430 G>A	E144K	A26		Gaustadnes et al., 2002
440	430 G>A;[E144K]	13311 G>A	1316 G>A	R439Q	A26		Gaustadnes et al., 2002
223	1471 C>T [R491C]	11711 C>T	1105 C>T	R369C	GM-V29		Kluijtmans et al., 1999
244	1105 C>T [R369C]	15304 C>T	1471 C>T	R491C	GM-V29		Kluijtmans et al., 1998
2	341 C>T; [A114V]	172 C>T	172 C>T	R58W	GT,2241		de Franchis et al., 1999
12	172 C>T; [R58W]	5840 C>T	341 C>T	A114V	GT,2241		de Franchis et al., 1999
38	1316 G>A; [R439Q]	5929 G>A	430 G>A	E144K	RP		Dawson et al.,1997
237	430 G>A; [E144K]	13311 G>A	1316 G>A	R439Q	RP		Dawson et al.,1997
611	1330 G>A; [D444N]	6714 C>T	572 C>T	T191M	Urr_008		Urreizti et al. 2006
612	572 C>T; [T191M]	13325 G>A	1330 G>A	D444N	Urr_008		Urreizti et al. 2006
1	IVS11-89del49	146 C>T	146 C>T	P49L	VP		de Franchis et al.,1998
268	146 C>T; [P49L]	13130del49	IVS11-89del49	n.d.	VP		Sperandeo et al., 1995

Retrieved from the database: 25/10/2020, 02:01 PM