Table II.
Characterization of Mutated Alleles in Czech and Slovak MPS I Patients
| Location | Nucleotide changea | Predicted effect on protein | Codon change | Frequencyb | Restriction enzymea | Refs. |
|---|---|---|---|---|---|---|
| Exon 2 | c.208C > T | p.Q70X | CAG > TAG | 7 (17%) | BfaI/FspBI | Scott et al. 1992b |
| Exon 5 | c.501C > A | p.Y167X | TAC > TAA | 1 (3%) | RsaI | Beesley et al. 2001 |
| Exon 7 | c.943G > T | p.D315Y | GAC > TAC | 1 (3%) | RsaI | Scott et al. 1995, Li et al. 2002 |
| Exon 8 | c.979G > C | p.A327P | GCG > CCG | 2 (5%) | BstUI | Bunge et al. 1994 |
| Exon 8 | c.1139A > G | p.Q380R | CAG > CGG | 4 (10%) | PvuII | Scott et al. 1995 |
| Exon 9 | c.1205G > A | p.W402X | TGG > TAG | 12 (30%) | BfaI/FspBI | Scott et al. 1992a |
| Exon 11 | c.1614delG | p.H539TfsX21 | 1 (3%) | ApaLI | Scott et al. 1993a | |
| Intron 11 | c.1650 + 5G > A (IVS11 + 5G > A) | Splicing error | 3 (7%) | NdeI (ACRS) | Venturi et al. 2002 | |
| Intron 12 | c.1727 + 2T > G (IVS12 + 2T > G) | Splicing error p.C577GfsX15 | 1 (3%) | Novel | ||
| Exon 14 | c.1858G > T | p.V620F | GTT > TTT | 3 (7%) | Tsp509I (ACRS) | Novel |
| Exon 14 | c.1877G > A | p.W626X | TGG > TAG | 1 (3%) | BfaI | Novel |
| Exon 14 | c.1882C > T | p.R628X | CGA > TGA | 1 (3%) | ApaI | Beesley et al. 2001 |
| Exon 14 | c.1918_1927del | p.E640Cfs | del.GAGGTCCCTG | 2 (5%) | Novel |
a
Novel variants in boldface type.
b
The total number of alleles N = 40 used for frequency estimation includes also unspecified mutated allele.
c
ACRS, amplification created restriction site.