Mutation2-150
|
Predicted effect
|
Location
|
Phenotype2-151
|
Reference
|
856C→T | Q286X | Exon 6 | PLS |
16, 28
|
1047delA | Frameshift, termination at aa 349 | Exon 7 | PLS |
16 |
1028-1029delCT | Introduction of premature termination codon | Exon 7 | PLS |
16 |
1286G→A | W429X | Exon 7 | PLS |
16 |
1019A→G | Y340C | Exon 7 | PLS | Hart, unpublished data |
1040A→G | Y347C | Exon 7 | PPP | This report |
PLS |
44 |
755A→T | Q252L | Exon 5 | PLS |
44 |
1015C→T | R339C | Exon 7 | PLS | 44, Hart, unpublished data |
745G→T | V249F | Exon 5 | PLS |
44
|
901G→A | G301S | Exon 7 | PLS |
44
|
628C→T | R210X | Exon 4 | PLS |
44
|
815G→C | R272P | Exon 6 | PLS |
44 |
IVS3-1G→A | Altered splicing | Intron 3 | PLS |
44 |
857A→G | Q286R | Exon 6 | HMS |
28
|