CBS MUTATION DATABASE

doc.gif (130 bytes) Mutation database
    


Linked mutations - CBS database

Allele IDLinked mutationGene NT changecDNA NT changeProtein changePatient cell lineCommentsReferences
4306 G>C; [K102N]3600 C>G233 C>GP78R1873Sib of 1875de Franchis et al., 1994
11233 C>G; [P78R]3673 G>C306 G>CK102N1873Sib of 1875de Franchis et al., 1994
10IVS4-31del 29; [del ex 5]3671 A>C 6643 del29304 A>C; IVS4-29del129K102Q; del EX53149Kozich et al., 1997b
260304 A>C; [K102Q]6643del29IVS4-31del 29del ex 53149Kozich et al., 1997b
326430G>A;[E144K]6510 G>A463 G>AA155T3177Janosik et al., 2001
327463G>A;[A155T]5929 G>A430 G>AE144K3177Janosik et al., 2001
47430G>A;[E144K]6510 G>A463 G>AA155T403, 3178Sib of 404Janosik et al., 2001
317463G>A;[A155T]5929 G>A430 G>AE144K403, 3178Sib of 404Janosik et al., 2001
304430G>A;[E144K]6510 G>A463 G>AA155T404Sib of 403Janosik et al., 2001
318463G>A;[A155T]5929 G>A430 G>AE144K404Sib of 403Janosik et al., 2001
267IVS7+1 G>A [828ins104, 737del92]13000del99IVS11+39del99n.d.405 ,3166Janosik et al., 2001
264IVS11+39del99 [n.d.]8297 G>AIVS7+1 G>A828ins104, 737del92405, 3166Janosik et al., 2001
32393 G>C; [E131D]5873 G>A374 G>AR125Q578Marble et al.,1994
297374 G>A; [R125Q]5892 G>C393 G>CE131D578Marble et al.,1994
4391316 G>A;[R439Q]5929 G>A430 G>AE144KA26Gaustadnes et al., 2002
440430 G>A;[E144K]13311 G>A1316 G>AR439QA26Gaustadnes et al., 2002
2231471 C>T [R491C]11711 C>T1105 C>TR369CGM-V29Kluijtmans et al., 1999
2441105 C>T [R369C]15304 C>T1471 C>TR491CGM-V29Kluijtmans et al., 1998
2341 C>T; [A114V]172 C>T172 C>TR58WGT,2241de Franchis et al., 1999
12172 C>T; [R58W]5840 C>T341 C>TA114VGT,2241de Franchis et al., 1999
381316 G>A; [R439Q]5929 G>A430 G>AE144KRPDawson et al.,1997
237430 G>A; [E144K]13311 G>A1316 G>AR439QRPDawson et al.,1997
6111330 G>A; [D444N]6714 C>T572 C>TT191MUrr_008Urreizti et al. 2006
612572 C>T; [T191M]13325 G>A1330 G>AD444NUrr_008Urreizti et al. 2006
1IVS11-89del49146 C>T146 C>TP49LVPde Franchis et al.,1998
268146 C>T; [P49L]13130del49IVS11-89del49n.d.VPSperandeo et al., 1995

Retrieved from the database: 24/07/2017, 02:43 AM


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