|
| Mutation | Published Name | Amino acid change | Exon | Type |
|
| 292C>T | Q13X | Q13X | exon 1 | Stop codon |
|
|
| Comment | |
| Source | Verlander et al. Am J Hun Gen 54:595-601 (1994)Murer-Orlando et al. Lancet 342:686 (1993) |
|
| 320G>A | W22X | W22X | exon 1 | Stop codon |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 (1996)PMID: 8844212, MUID: 97001220 |
|
| 322delG | | 23D>I+21aa | exon 1 | Frameshift |
|
|
| Comment | frameshift; 44aa peptide (D23I+21aa) |
| Source | Strathdee et al. Nature 356:763-767 (1992) |
|
| IVS4+4A>T | IVS4+4A->T | | intron 4 | RNA splicing |
|
|
| Comment | |
| Source | Whitney et al. Nature Gen 4:202-205 (1993) |
|
| 775C>T | 775C->T | R174X | exon 5 | AA substitution |
|
|
| Comment | |
| Source | Lo Ten Foe et al. Hum Mut 8: (1996) |
|
| 808C>T | R185X | R185X | exon 6 | Stop codon |
|
|
| Comment | |
| Source | Gibson et al.Hum Mol Gen 2:797-799 (1993) |
|
| 1742T>G | L496R | L496R | exon 13 | AA substitution |
|
|
| Comment | |
| Source | Gibson et al. Hum Mut 8:140-148 |
|
| 1806insA | | | exon 14 | Insertion |
|
|
| Comment | |
| Source | Lo Ten Foe et al. Hum Mut 7:264-265 (1996) |
|
| 1897C>T | R548X | R548X | exon 14 | Stop codon |
|
|
| Comment | |
| Source | Murer-Orlando et al. Lancet 342:686 (1993) |
|
| 1916T>C | L554P | L554P | exon 14 | AA substitution |
|
|
| Comment | |
| Source | Strathdee et al. Nature Gen 1:196-198 (1992) |
|
