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Table 1 Summary of the mutations in the ECM1 gene reported so far

From: Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family

Position Sequence change Mutation type Predicted
protein change
Patient origin Reference
Genotype: homozygous
Intron 1 IVS1+1G>C Splice site Removal of the translation initiation site Israeli Arab,
Kuwaiti, Egyptian
10, 17
Exon 2 c.93G>T Missense p.R31S Libyan 19
Exon 2 c.94 C>T Nonsense p.Q32X Libyan, Indian 17, 19
Exon 3 c.157 C>T Nonsense p.R53X Japanese 20, 21
Exon 3 c.220 C>T Nonsense p.Q74X Indian 17
Exon 4 c.243delG Deletion In-frame deletion of 61 amino acids Thai 20
Exon 5 c.340 C>T Nonsense p.Q114X Japanese 17
Exon 6 c.499 T>C Missense p.F167L Polish 22
Exon 6 c.501insC Insertion Frame shift Dutch, Belgian 2,23
Exon 6 c.507delT Deletion Frame shift Japanese, Thai, Indian, Canadian, Iranian, Turkish, Pakistani, Chinese 17,20,23,24, 25,26
Exon 6 c.541del3ins16 Indel Frame shift Brazilian 27
Exon 6 c.589 C>T Nonsense p.Q197X Italian 28
Exon 6 c.629 T>C Missense p.L210P French 17
Exon 6 c.658 T>G Missense p.C220G Chinese 29, 30
Exon 7 c.727 C>T Nonsense p.R243X Belgian 31
Exon 7 c.735delTG Deletion Frame shift Turkish 20
Exon 7 c.742 G>T Nonsense p.E248X Indian 32
Exon 7 c.785delA Deletion Frame shift Indian 20
Exon 7 c.806 G>A Missense p.C269T Saudi Arabian 33
Exon 7 c.826 C>T Nonsense p.Q276X South African 2
Exon 7 c.892delC Deletion Frame shift Japanese 20
Exon 7 c.1036 C>T Nonsense p.Q346X Pakistani 2
Exon 7 c.1077 G>A Nonsense p.W359X British 2, 17
Exon 7 c.1019delA Deletion Frame shift Kuwaiti 2
Intron 7 IVS7+1G>A Splice site   Pakistani 17
Exon 8 c.1106 A>G Missense p.H369C Indian 17
Exon 8 c.1190insC Insertion Frame shift American 20
Exon 8 c.1209ins62 Insertion Frame shift Pakistani 34
Exon 8 c.1246 C>T Nonsense p.R416X Indian 17
Exon 8 c.1253delC Deletion Frame shift British 17
Exon 8 c.1300delAA Deletion Frame shift Saudi Arabian 17, 33
Intron 8 IVS8+1G>A Splice site   Pakistani 17
Intron 8 - Intron 10 IVS8_IVS10del Deletion Deleterious effect on protein structure and function Saudi Arabian 2, 33
Exon 10 c.1393delA Deletion Frame shift Israeli 18
Exon 10 c.1426 C>T Nonsense p.R476X Indian 17
Exon 10 c.1441 C>T Nonsense p.R481X Indian 17
Genotype: compound heterozygous
Exon 1 c.29 T>G Missense p.V10G Polish 17
Intron 1 IVS1+1G>A Splice site    
Exon 3 c. 157 C>T Nonsense p.R53X Spanish 17
Exon 6 c.603delTG Deletion Frame shift   
Exon 4 c.240delTC Deletion Frame shift German 18
Exon 7 c.1019delA Deletion Frame shift   
Exon 4 c.283 C>T Nonsense p.Q95X British 17
Exon 10 c.1432delA Deletion Frame shift   
Exon 6 c.480 G>A Nonsense p.W160X Canadian 20
Exon 6 c. 499 T>A Missense p.F167I   
Exon 6 c.542insAA Insertion Frame shift Italian 20
Exon 7 c.727 C>T Nonsense p.R243X   
Exon 6 c.543delTG/ins15 Indel Frame shift Italian 35
Exon 7 c.727 C>T Nonsense p.R243X   
Exon 6 c.658 T>G Missense p.C220G Chinese 36
Exon 10 c.1426 C>T Nonsense p.R476X   
Exon 7 c.727 C>T Nonsense p.R243X Italian 17
Exon 7 c.735delTG Deletion Frame shift