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Exon | Mutation (Nucleotide) | Influence on Amino Acid | Clinical Significance | Other findings | Study |
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Exon 6 | c.1191insC | p.Gln398fsX18 | Pathogenic | (i) Homozygous (ii) Frameshift | Coromilas et al. 2011 |
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Exon 5 | c.850G>A | p.Glu284Lys | Likely/benign | (i) Missense (ii) France (iii) Homozygous | Kury et al., 2002 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Exon 3 | c.511G>T | p.Val171Leu | Uncertain Significance | (i) Missense (ii) Heterozygous (iii) Caucasian | Schmitt et al. 2009 |
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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 |
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Exon 3 | c.631C>T | p.Gln211X | Likely Pathogenic | (i) Nonsense (ii) Truncated protein (iii) Tunisia (iv) Homozygous | Meftah et al. 2006 |
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Exon 3 | c.641_642ins10 | p.Ser214ArgfsX30 | Unknown | (i) Frameshift | Santiago et al. 2011 |
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Exon 4 | c.766delC | p.Leu256SerfsX16 | Likely Pathogenic | (i) Deletion (ii) Spanish (iii) Truncated protein (iv) Heterozygous | Schmitt et al. 2009 |
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Exon 4 | c.751C>T | p.Arg251Trp | Benign | (i) Missense (ii) Homozygous (iii) France | Wang et al. 2002 |
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Exon 5 | c.850G>A | p.Glu284Lys | Likely/benign | (i) Missense (ii) Homozygous | Kury et al. 2003 |
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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 |
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Exon 5 | c.926G>A | p.Cys309Tyr | Unknown | (i) Missense | Wang et al. 2002 |
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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 |
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Exon 6 | c.989G>A | p.Gly330Asp | Likely Pathogenic | (i) Cellular mislocalization (ii) Missense (iii) Egypt (iv) Homozygous | Wang et al. 2002 |
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Exon 6 | c.1016_1017ins53 | p.Thr357AlafsX10 | Unknown | (i) Frameshift (ii) Premature termination codon (iii) Heterozygous (iv) Japan | Nakano et al. 2003 |
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Exon 6 | c.1115T>C | p.Leu372Pro | Likely Pathogenic | (i) Reduced protein levels (ii) Missense (iv) Egypt (iv) Homozygous | Wang et al. 2002 |
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Exon 6 | c.1120G>A | p.Gly374Arg | Pathogenic | (i) Reduced protein levels (ii) Missense (iii) France (iv) Homozygous | Kury et al. 2002 |
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Exon 6 | c.1141A>G | p.Thr381Ala | Uncertain Significance | (i) Missense (ii) Heterozygous (iii) Caucasian | Schmitt et al. 2009 |
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Exon 6 | c.1115T>G | p.Leu372Arg | Unknown | (i) Missense | Li et al. 2010 |
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Intron 6 | c.1150-2A>G | Acceptor splice site error (possibly) | Uncertain significance | (i) Homozygous (ii) France | Wang et al. 2002 |
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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 |
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Exon 7 | c.1223delC | p.Ala408fsX481 | Unknown | (i) Frameshift | Vardi et al. 2009 |
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Exon 7 | c.1223_1227delCCGGG | p.Trp411ArgfsX7 | Uncertain significance | (i) Frameshift (ii) Founder Effect (iii) Tunisian (iv) Homozygous | Kury et al. 2002 |
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Exon 7 | c.1229T>C | p.Leu410Pro | Uncertain Significance | (i) Missense | Wang et al. 2002 |
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Intron 7 | c.1287+2T>C | Acceptor splice site error (possibly) | Uncertain Significance | | Park et al. 2010 |
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Exon 9 | c.1438G>T | p.Glu480Sto | Unknown | Stop | Nakano et al. 2009 |
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Exon 9 | c.1462_147411+delAGACTGAGCCCAGG | p.Arg488SerfsX2 | Unknown | (i) Frameshift | Wang et al. 2008 |
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Exon 10 | c.1534G>T | p.Gly512Trp | Pathogenic | (i) Missense (ii) Tunisia (iii) Homozygous (iv) Affect amino acids | Schmitt et al. 2009 |
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Exon 10 | c.1576G>A | p.Gly526Arg | Pathogenic | (i) Reduces Vmax (ii) Missense (iii) France (iv) Homozygous | Kury et al. 2002 |
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Exon 11 | c.1784G>T | p.Gly595Val | Uncertain significance | (i) Missense (ii) Tunisia | Kharfi et al. 2010 |
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Exon 11 | c.1646_1648delTGC | p.549delLeu | Pathogenic | (i) Deletion (ii) Sweden (iii) Homozygous (iv) Affect amino acids | Schmitt et al. 2009 |
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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 |
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