|
| Exon | Mutation (Nucleotide) | Influence on Amino Acid | Clinical Significance | Other findings | Study |
|
| Exon 6 | c.1191insC | p.Gln398fsX18 | Pathogenic | (i) Homozygous
(ii) Frameshift | Coromilas et al. 2011 |
|
| Exon 5 | c.850G>A | p.Glu284Lys | Likely/benign | (i) Missense
(ii) France
(iii) Homozygous | Kury et al., 2002 |
|
| Exon 1 | c.184T>C | p.Cys62Arg | Uncertain Significance | (i) Missense
(ii) May affect protein conformation due to loss of disulfide bond
(iii) Tunisia
(iv) Homozygous | Kury, et al. 2003 |
|
| Exon 1 | c.143T>G | p.Leu48X | Likely pathogenic | (i) Nonsense
(ii) Homozygous
(iii) Tunisia
(iv) Lacks putative zinc binding site | Kury et al. 2003
Kharfi et al. 2005
Nakano et al. 2003 |
|
| Intron 1 | c.192+19G>A | Donor splice site error (possibly)
| Likely
/Pathogenic | (i) France
(ii) Compound heterozygous/homozygous
(iii) Possibly altering transcripts through mis-splicing | Kury et al. 2002 |
|
| Exon 2 | c.283C>T | p.Arg95Cys | Pathogenic | (i) Missense
(ii) Japanese
(iii) Compound heterozygous
(iv) Abolishes restriction enzyme site for Faul | Nakano et al. 2003 |
|
| Exon 2 | c.318C>A | p.Asn106Lys | Pathogenic | (i) Missense
(ii) France
(iii) Compound Heterozygous
(iv) Deletion in one allele – failed expression of gene | Wang et al. 2002 |
|
| Intron 2 | c.475-2A>G | Acceptor splice site error (possibly) | Uncertain Significance | (i) Nonsense
(ii) Homozygous
(iii) France
(iv) Appearance of premature stop codon | Kury et al. 2003 |
|
| Exon 2 | c.251C>T | p.Pro84Leu | Likely Benign | (i) Missense
(ii) Various countries
(iii) Possibly compound heterozygous
(iv) Various amino acid change | Wang et al. 2002 |
|
| Exon 3 | c.511G>T | p.Val171Leu | Uncertain Significance | (i) Missense
(ii) Heterozygous
(iii) Caucasian | Schmitt et al. 2009 |
|
| Exon 3 | c.599C>T | p.Pro200Leu | Pathogenic | (i) Missense
(ii) reduces Vmax/alter protein folding
(iii) France + Austria
(iv) Compound heterozygous/homozygous | Kury et al. 2002 |
|
| Exon 3 | c.631C>T | p.Gln211X | Likely Pathogenic | (i) Nonsense
(ii) Truncated protein
(iii) Tunisia
(iv) Homozygous | Meftah et al. 2006 |
|
| Exon 3 | c.641_642ins10 | p.Ser214ArgfsX30 | Unknown | (i) Frameshift | Santiago et al. 2011 |
|
| Exon 4 | c.766delC | p.Leu256SerfsX16 | Likely Pathogenic | (i) Deletion
(ii) Spanish
(iii) Truncated protein
(iv) Heterozygous | Schmitt et al. 2009 |
|
| Exon 4 | c.751C>T | p.Arg251Trp | Benign | (i) Missense
(ii) Homozygous
(iii) France | Wang et al. 2002 |
|
| Exon 5 | c.850G>A | p.Glu284Lys | Likely/benign | (i) Missense
(ii) Homozygous | Kury et al. 2003 |
|
| Exon 5 | c.909G>C | p.Gln303His | Pathogenic | (i) Missense
(ii) Homozygous
(iii) Substitution of highly conserved amino acid
(iv) Japan | Nakano et al. 2003 |
|
| Exon 5 | c.926G>A | p.Cys309Tyr | Unknown | (i) Missense | Wang et al. 2002 |
|
Exon 5
| c.968_971del
AGTC | p.Ser324ArgfsX24 | Likely/
Pathogenic | (i) Frameshift
(ii) France
(iii) Compound Heterozygous
(iv) Alter protein function | Kury et al. 2002 |
|
| Exon 6 | c.989G>A | p.Gly330Asp | Likely Pathogenic | (i) Cellular mislocalization
(ii) Missense
(iii) Egypt
(iv) Homozygous | Wang et al. 2002 |
|
| Exon 6 | c.1016_1017ins53 | p.Thr357AlafsX10 | Unknown | (i) Frameshift
(ii) Premature termination codon
(iii) Heterozygous
(iv) Japan | Nakano et al. 2003 |
|
| Exon 6 | c.1115T>C | p.Leu372Pro | Likely Pathogenic | (i) Reduced protein levels
(ii) Missense
(iv) Egypt
(iv) Homozygous | Wang et al. 2002 |
|
| Exon 6 | c.1120G>A | p.Gly374Arg | Pathogenic | (i) Reduced protein levels
(ii) Missense
(iii) France
(iv) Homozygous | Kury et al. 2002 |
|
| Exon 6 | c.1141A>G | p.Thr381Ala | Uncertain Significance | (i) Missense
(ii) Heterozygous
(iii) Caucasian | Schmitt et al. 2009 |
|
| Exon 6 | c.1115T>G | p.Leu372Arg | Unknown | (i) Missense | Li et al. 2010 |
|
| Intron 6 | c.1150-2A>G | Acceptor splice site error (possibly) | Uncertain significance | (i) Homozygous
(ii) France | Wang et al. 2002 |
|
| Exon 7 | c.1203G>A | p.Trp401X | Likely/
pathogenic | (i) Nonsense
(ii) Compound Heterozygote
(iii) Austria
(iv) Absence of zinc binding site | Kury et al. 2003 |
|
| Exon 7 | c.1223delC | p.Ala408fsX481 | Unknown | (i) Frameshift | Vardi et al. 2009 |
|
| Exon 7 | c.1223_1227delCCGGG | p.Trp411ArgfsX7 | Uncertain significance | (i) Frameshift
(ii) Founder Effect
(iii) Tunisian
(iv) Homozygous | Kury et al. 2002 |
|
| Exon 7 | c.1229T>C | p.Leu410Pro | Uncertain Significance | (i) Missense | Wang et al. 2002 |
|
| Intron 7 | c.1287+2T>C | Acceptor splice site error (possibly) | Uncertain Significance | | Park et al. 2010 |
|
| Exon 9 | c.1438G>T | p.Glu480Sto | Unknown | Stop | Nakano et al. 2009 |
|
| Exon 9 | c.1462_147411+delAGACTGAGCCCAGG | p.Arg488SerfsX2 | Unknown | (i) Frameshift | Wang et al. 2008 |
|
| Exon 10 | c.1534G>T | p.Gly512Trp | Pathogenic | (i) Missense
(ii) Tunisia
(iii) Homozygous
(iv) Affect amino acids | Schmitt et al. 2009 |
|
| Exon 10 | c.1576G>A | p.Gly526Arg | Pathogenic | (i) Reduces Vmax
(ii) Missense
(iii) France
(iv) Homozygous | Kury et al. 2002 |
|
| Exon 11 | c.1784G>T | p.Gly595Val | Uncertain significance | (i) Missense
(ii) Tunisia | Kharfi et al. 2010 |
|
| Exon 11 | c.1646_1648delTGC | p.549delLeu | Pathogenic | (i) Deletion
(ii) Sweden
(iii) Homozygous
(iv) Affect amino acids | Schmitt et al. 2009 |
|
| Exon 12 | c.1888G>C | p.Gly630Arg | Pathogenic for mental retardation/X-Linked | (i) Reduced protein levels
(ii) Missense
(iii) Homozygous
(iv) Jordan | Wang et al. 2002 |
|
