CBS MUTATION DATABASE
doc.gif (130 bytes) Mutation database
    

List of all CBS alleles

ID CBS activity in fibroblasts CBS activity in E.Coli Position Nucleotide change Exon Exon - intron Mutation type Restriction Haplotype cDNA change Protein change EYE SKEL VASC CNS Disease type Pyridoxine response CELL Ancestry References Commments Linked mutations CpG nucleotides
0     0   0                                    
1     146 146 C>T 1 EX1 miss Dde I+   146 C>T P49L eye skel - - - responsive VP Italian de Franchis et al.,1998   IVS11-89del49 CG>TG
2   1.3 172 172 C>T 1 EX1 miss     172 C>T R58W eye skel vasc cns severe non GT,2241 Italian de Franchis et al., 1999   341 C>T; [A114V] CG>TG
3     194 194 A>G 1 EX1 miss     194 A>G H65R - - - - - - JP1 Japanese Chen LS*      
4   12.6-60.9 3600 3600 C>G 2 EX2 miss   T699 233 C>G P78R - - vasc - mild responsive 1873 Irish de Franchis et al., 1994 Sib of 1875 306 G>C; [K102N]  
5   0 3620 3620 G>A 2 EX2 miss     253G>A G85R eye skel - - mild - EH Danish MacLean et al., 2002     CG>CA
6     3629 3629 C>T 2 EX2 miss Mnl I+   262 C>T P88S - - vasc - mild responsive RS1 Italian Sebastio et al., 1995 Sib of SS    
7   0 3669 3669 T>C 2 EX2 miss     302 T>C L101P - - - - - - 245 Irish Gallagher et al., 1998 Cousin of 040    
8   0 3669 3669 T>C 2 EX2 miss     302 T>C L101P - - - - - - 245 Irish Gallagher et al., 1998 Cousin of 040    
9   0 3669 3669 T>C 2 EX2 miss     302 T>C L101P - - - - - - 005 Irish Gallagher et al., 1998      
11     3671 3671 A>C 6643 del29 2 EX2; IVS4 miss PstI+ C1080 304 A>C; IVS4-29del129 K102Q; del EX5 eye - vasc - severe - 3149 Arabian Kozich et al., 1997b   IVS4-31del 29; [del ex 5]  
12   33.3-38.7 3673 3673 G>C 2 EX2 miss   T699 306 G>C K102N - - vasc - mild responsive 1873 Irish de Franchis et al., 1994 Sib of 1875 233 C>G; [P78R]  
13   0-54.5 5840 5840 C>T 3 EX3 miss Mae II+   341 C>T A114V eye skel vasc cns severe non GT,2241 Italian de Franchis et al., 1999   172 C>T; [R58W] CG>TG
14   0-54.5 5840 5840 C>T 3 EX3 miss Mae II+   341 C>T A114V eye skel vasc - mild responsive 676 Irish/German Kozich et al., 1993     CG>TG
15   0-54.5 5840 5840 C>T 3 EX3 miss Mae II+   341 C>T A114V eye skel - - mild responsive ArD,2242 Italian de Franchis et al., 1999 Sib of AnD   CG>TG
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