Table 2 Genes with mutations resulting in premature termination codons and nonsense mediated decay.
From: The diagnosis of inherited metabolic diseases by microarray gene expression profiling
Gene | MIM entry | Chip number | Mutation | Predicted effect |
|---|---|---|---|---|
ACADM* | 607008 | 33 | c.321-324delATTA c.199T > C, [Y67H] | Premature termination |
ADA | 608958 | 46 | c.350G > A, [W117X], second mutation unknown | Premature termination |
ADSL | 608222 | 67 | c.7G > C, [A3P] c.578C > T, [R190X] | AA substitution Premature termination |
AGA | 613228 | 89 | c.788delT | Premature termination |
DGUOK | 601465 | 8 | c.398C > T, [R105X] | Premature termination |
GAA* | 606800 | 49 | c.2560C > T, [R854X] | Premature termination |
HEXA | 606869 | 2 | c.1278-1282insTATC, second mutation unknown | Premature termination |
HEXA | 606869 | 84 | c.1278-1282insTATC, second mutation unknown | Premature termination |
HPRT1 | 300322 | 73 | g.IVS6+2T > A | 3'splice junction (exon insertion) |
HPRT1 | 300322 | 75 | g.IVS7+1G > T | Exon 7 skipping |
MOCS2* | 603708 | 93 | c.564G > C, [W228C] c.726-727delAA | exon 5 skipping Premature termination |
NPC1 | 607623 | 85 | c.1189C > T, [Q397X] | Premature termination |
NPC2 | 601015 | 6 | c.58G > T, [E20X] | Premature termination |
SURF1 | 185620 | 9 | c.326-327insAT 326-336 del TCTGCCAGCC c.823-842delATCGTGACCTGGTGAAGTC | Premature termination |