The UMD-MSH2 mutations database
Mutation
c.IVS5+28del2 (c.942+28del2)
| Splice site type | Wild type sequence | CV | Mutant type sequence | CV | Variation (%) | |||||
| aaagggtta |
| agggttaaa |
| 50.4 % |
 |
Data for this mutation
| Sample ID | MSH2 | MLH1 | MSH6 | MUTYH | APC |
|---|---|---|---|---|---|
| 7_1068292E2K274 | c.IVS10+12G>A (c.1661+12G>A) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | - | - | - |
| 7_1717269E2K248 | - | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | c.IVS7+35del4 (c.3646+35del4) c.IVS8+51del (c.3801+51del) c.IVS8+54C>G (c.3801+54C>G) | - | - |
| 7_2001404E01059 | - | c.IVS15-19T>A (c.1732-19T>A) c.1959G>T (p.Leu653Leu) | c.IVS8+51del (c.3801+51del) c.116G>A (p.Gly39Glu) c.540T>C (p.Asp180Asp) c.642C>T (p.Tyr214Tyr) | - | - |
| 7_2125259E2K239 | - | c.IVS15-19T>A (c.1732-19T>A) | c.IVS7+35del4 (c.3646+35del4) c.IVS8+51del (c.3801+51del) | - | - |
| 7_2160413E01100 | c.IVS10+12G>A (c.1661+12G>A) | c.IVS15-19T>A (c.1732-19T>A) | c.490C>T (p.His164Tyr) c.116G>A (p.Gly39Glu) | - | - |
| 7_2231569E01257 | c.IVS1+9C>G (c.211+9C>G) c.IVS1-4del (c.212-4del) c.IVS14+36G>A (c.2458+36G>A) | - | c.IVS7+35del4 (c.3646+35del4) c.116G>A (p.Gly39Glu) | - | - |
| 7_2318963E02299 | c.IVS10+12G>A (c.1661+12G>A) | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | c.186C>A (p.Arg62Arg) c.276A>G (p.Pro92Pro) | - | - |
| 7_2398270E2K249 | c.958A>G (p.Thr320Ala) c.IVS10+12G>A (c.1661+12G>A) c.965G>A (p.Gly322Asp) | - | - | - | - |
| 7_2523416E01101 | c.IVS10+12G>A (c.1661+12G>A) | c.IVS15-19T>A (c.1732-19T>A) | c.186C>A (p.Arg62Arg) c.276A>G (p.Pro92Pro) | - | - |
| 7_2600581E01271 | c.IVS1-4del (c.212-4del) c.IVS10+12G>A (c.1661+12G>A) c.IVS14+36G>A (c.2458+36G>A) | - | c.IVS7+35del4 (c.3646+35del4) | - | - |
| 7_2764626E02022 | c.IVS1-4del (c.212-4del) c.IVS14+36G>A (c.2458+36G>A) | - | c.3549A>G (p.Ile1183Met) c.IVS7+35del4 (c.3646+35del4) | - | - |
| 7_3004980E02300 | - | c.IVS14-19A>G (c.1668-19A>G) c.655A>G (p.Ile219Val) | c.IVS7+35del4 (c.3646+35del4) c.IVS8+54C>G (c.3801+54C>G) | - | - |
| 7_444453E01139 | c.2647dup (p.Ile883AsnfsX16) c.IVS1+9C>G (c.211+9C>G) c.IVS1-4del (c.212-4del) c.741C>T (p.Gly247Gly) c.IVS14+36G>A (c.2458+36G>A) | - | - | - | - |
| Biological significance | Date | Comment |
|---|---|---|
| UV | 5/06/07 | --- |