Table 2
Mutations detected in GALNS gene of 28 MPS IVA patients
| Base change* | aa change‡ | Exon/intron | Conserved aa residue | Conservative change | Population identified§ | Phenotype** | Frequency (%)†† |
|---|---|---|---|---|---|---|---|
| *Numbered according to standard nomenclature and +1 is the adenine of the initiation codon, Met; †recurrent mutation; ‡the novel mutation is written in italic; §population in which the mutation was identified: Ar, Argentine; Au, Austrian; Br, Brazilian; Ca, Canadian; Ch, Chilean; Co, Colombian; Fr, French; Ge, German; It, Italian; Ja, Japanese; Ma, Moroccan; Me, Mexican; No, Norwegian; Pa, Pakistani; Po, Polish; Port, Portuguese; Tu, Turkish; UK, British/Irish; USA, resident in USA; **phenotype: clinical severity associated with each mutation; ††allele frequency of each mutation in this study; ‡‡the mutation of a C to T transition in the CpG dinucleotide; aa; amino acid. | |||||||
| c.121A>T | M41L | E2 | Conserved | Conservative | Acadian | Milder | 7.1 |
| c.139G>A† | G47R‡‡ | E2 | Conserved | Non-conservative | Honduran, Po | Severe | 3.6 |
| c.154_165del | 4 aa deletion | E2 | UK | Severe | 1.8 | ||
| c.206T>G | F69V | E2 | Conserved | Non-conservative | Co | Severe | 1.8 |
| c.230C>G† | P77R | E2 | Conserved | Non-conservative | Indian, USA | Severe | 3.6 |
| c.268C>T† | R90W‡‡ | E3 | Conserved | Non-conservative | Au, Pa | Severe | 1.8 |
| c.280C>G† | R94G | E3 | Conserved | Non-conservative | Ja, Po | Undefined | 1.8 |
| c.337A>T† | I113F | E4 | Non-conserved | Conservative | UK | Severe | 3.6 |
| c.415G>A† | G139S‡‡ | E4 | Conserved | Conservative | Ar, Br, UK, USA | Severe | 1.8 |
| c.464G>A† | G155E | E5 | Conserved | Non-conservative | USA | Severe | 1.8 |
| c.478C>G† | H166Q | E5 | Non-conserved | Non-conservative | Ca, UK | Severe | 1.8 |
| 600delG | Premature stop | E6 | New Zealand | Severe | 1.8 | ||
| c.612C>G† | N204K | E6 | Non-conserved | Non-conservative | Ja | Milder | 1.8 |
| c.697G>A | D233N‡‡ | E7 | Non-conserved | Non-conservative | Ge | Severe | 1.8 |
| c.740G>A† | G247D | E7 | Conserved | Non-conservative | Ge, No, USA | Milder | 1.8 |
| c.758+1G>C | IVS 7+1 G>C | I7 | Ja | Severe | 1.8 | ||
| c.860C>T† | S287L‡‡ | E8 | Non-conserved | Non-conservative | Au, Po, USA | Severe | 3.6 |
| c.871G>A† | A291T‡‡ | E8 | Non-conserved | Conservative | Finnish, Ja, Pa | Severe | 1.8 |
| c.884C>T† | S295F | E8 | Non-conserved | Non-conservative | Au, Dutch | Milder | 1.8 |
| c.898+1G>C | IVS8+1G>C | I8 | Caucasian | Severe | 3.6 | ||
| c.899-2A>G | IVS8-2A>G | I8 | UK | Severe | 1.8 | ||
| c.901G>T† | G301C | E9 | Conserved | Non-conservative | Co, Ma, Port, UK | Severe | 3.6 |
| c.935C>G† | T312S | E9 | Non-conserved | Conservative | UK | Milder | 1.8 |
| c.1012C>T | Q338X | E10 | Non-conservative | No, USA | Severe | 1.8 | |
| c.1019G>A | G340D | E10 | Non-conserved | Non-conservative | Au | Severe | 1.8 |
| c.1034T>C | L345P | E10 | Conserved | Non-conservative | Ge | Severe | 1.8 |
| c.1055T>C | L352P | E10 | Conserved | Non-conservative | USA | Milder | 1.8 |
| c.1082G>T† | R361G | E10 | Conserved | Non-conservative | Ge, UK | Severe | 1.8 |
| c.1127G>A† | R376Q‡‡ | E10 | Non-conserved | Conservative | Ge, UK | Severe | 1.8 |
| c.1156C>T† | R386C‡‡ | E11 | Non-conserved | Non-conservative | Ar, Br, Ch, Co, Ge, It, | Severe | 1.8 |
| Ja, Me, Tu, UK, USA | |||||||
| c.1171A>G† | M391V | E11 | Non-conserved | Conservative | Ca, UK, USA | Milder | 8.9 |
| c.1192C>G | H398D | E11 | Non-conserved | Non-conservative | Pa | Milder | 7.1 |
