CBS MUTATION DATABASE

doc.gif (130 bytes) Mutation database
    


POINT MUTATIONS IN CpG DOUBLETS IN CBS GENE

gDNA NT changecDNA NT changeProtein changeExon-IntronCpG doubletsTotal
146 C>T146 C>TP49L1CG>TG5
172 C>T172 C>TR58W1CG>TG1
3620 G>A253 G>AG85R2CG>CA6
5840 C>T341 C>TA114V3CG>TG10
5873 G>A374 G>AR125Q3CG>CA1
5845 G>A346 G>AG116R3CG>CA5
5860 C>T361 C>TR121C3CG>TG; *5
5861 G>A362 G>AR121H3CG>CA; *7
5872 C>T373 C>TR125W3CG>TG5
5873 G>A374 G>AR125Q3CG>CA14
5873 G>C374 G>CR125P3CG>CC1
5914 G>A415 G>AG139R3CG>CA1
5928 C>G429 C>GI143M3CG>GG2
5929 G>A430 G>AE144K3CG>CA12
5933 C>T434 C>TP145L3CG>TG1
5941 G>A442 G>AG148R3CG>CA3
5950 G>A451 G>AG151R3CG>CA5
6508 T>A461 T>AL154Q4CG>TG1
6549 G>A502 G>AV168M4CG>CA2
6573 G>A526 G>AE176K4CG>CA2
6714 C>T572 C>TT191M5CG>TG149
6927 G>A671 G>AR224H6CG>CA1
6932 G>A676 G>AA226T6CG>CA5
6956 G>A700 G>AD234N6CG>CA5
8238 C>T770 C>TT257M7CG>TG5
8238 C>T770 C>TT257M7CG>TG4
8243 G>A775 G>AG259D7CG>CA1
8243 G>A775 G>AG259S7CG>CA1
8253 C>G785 C>GT262R7CG>GG1
8253 C>T785 C>TT262M7CG>TG10
9151 G>A862 G>AA288T8CG>CA5
9158 C>T869 C>TP290L8CG>TG1
9193 G>A904 G>AE302K8CG>CA6
9208 G>A919 G>AG307S8CG>CA88
9837 C>T992 C>TA331V9CG>TG1
9851 C>T1006 C>TR336C9CG>TG; *83
9852 G>A1007 G>AR336H9CG>CA; *5
9884 G>A1039 G>AG347S9CG>CA6
11664 C>T1058 C>TT353M10CG>TG12
11687 G>A1081G>AA361T10CG>CA2
11711 C>T1105 C>TR369C10CG>TG; *4
11712 G>A1106 G>AR369H10CG>CA; *2
11717 G>A1111 G>AV371M10CG>CA3
11732 G>A1126 G>AD376N10CG>CA1
11742 G>A1136 G>AR379Q10CG>CA2
13260 C>T1265 C>TP422L12CG>TG1
13311 G>A1316 G>AR439Q12CG>CA3
13325 G>A1330 G>AD444N12CG>CA17
13972 C>T1397C>TS466L13CG>TG1
15304 C>T1471 C>TR491C14CG>TG1
6955 C>T 699 C>T Y233Y Ex6 CG>TG #
11686 C>T 1080 C>T A360A Ex10 CG>TG #

Retrieved from the database: 29/05/2017, 09:32 AM


# synonymous mutations
CG>TG; C>T mutation on the sense strand
CG>CA; C>T mutation on the antisense strand
CG>TG*, CG>CA*; asterisk denotes a CpG dinucleotide that has been mutated on opposite strands in different alleles

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