Table 1 |
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|
Summary of the mutations in the ECM1 gene reported so far |
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|
Position |
Sequence change |
Mutation type |
Predicted protein change |
Patient origin |
Reference |
|
|
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|
Genotype: homozygous |
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|
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 |
||
|
|
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|
Nasir et al. Diagnostic Pathology 2011 6:69 doi:10.1186/1746-1596-6-69 |
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