CBS MUTATION DATABASE |
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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 |
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