Phenotype | Exon/intron location | Nucleotide change | Effect on coding sequence | Genotype | Reference | |
---|---|---|---|---|---|---|
1.1 | Classical | Exon 1 | c126-127insCATG | Frameshift/stop codon | c126-127 insCATG | This work |
1.2 | Classical | Exon 1 | c126-127insCATG | Frameshift/stop codon | c126-127 insCATG | This work |
2.1 | Classical | Exon 4 | c617-618delTT | Frameshift/stop codon | c617-618delTT | This work |
3.1 | Classical | Exon 6 | c946delG | Frameshift/stop codon | c946delG | This work |
4.1 | Classical | Intron 3 | IVS3+1G>A | Splicing defect | IVS3+1G>A | 21 |
5.1 | Classical | Exon 3 | c500T>C | Amino acid change | L167P | This work |
6.1 | Classical | Exon 7 | c1055C>A | Amino acid change | A352D (de novo) | This work |
7.1 | Classical | Exon1 (helix terminus) | c119C>T | Amino acid change | P40L | 21 |
8.1 | Classical | Exon 7 (disulphide) | c1133G>A | Amino acid change | C378Y | 29 |
9.1 | Classical | Exon 5 (active site) | c680A>T | Amino acid change | R227Q | 22 |
9.2 | Classical | Exon 5 (active site) | c680A>T | Amino acid change | R227Q | 22 |
9.3 | Classical | Exon 5 (active site) | c680A>T | Amino acid change | R227Q | 22 |
10.1 | Classical | Exon 7 | c1095T>A | Stop codon | Y365X (de novo) | 31 |
11.1 | Classical | Exon 5 | c658C>T | Stop codon | R220X | 30 |
12.1 | Classical | Exon 2 | c233C>G | Stop codon | S78X | 28 |
13.1 | Classical | Exon 2 | c233C>G | Stop codon | S78X | 28 |
14.1 | Classical | Exon 5 (buried) | c708G>C | Amino acid change | W236C | 19 |
14.2 | Classical | Exon 5 (buried) | c708G>C | Amino acid change | W236C | 19 |