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