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Mutations of OA1. The amino acid changes were deduced from the genomic sequence. |
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| Patient |
Nucleotide change |
Amino acid change |
Exon |
Protein domain |
Reference |
|
|
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| A (familial case) |
401T->C |
L134P |
3 |
TMIII |
[12] |
| B (Canadian sporadic case) |
853A->T |
R285X |
7 |
l3 |
[12] |
| C (French familial case) |
241G->T |
G81V |
1 |
TMII |
Previously unidentified mutation |
| D (Canadian sporadic case) |
348C->G |
C116W |
2 |
l1 |
Previously unidentified mutation |
| E (French sporadic case) |
497C->A |
T166N |
4 |
TMIV |
Previously unidentified mutation |
| F (French sporadic case) |
163_170dupGCGGGCCC |
G58fsX29 (Frameshift) |
1 |
i1 |
Previously unidentified mutation |
| G (French sporadic case) |
504_505delCT |
L168fsX58 (Frameshift) |
4 |
TMIV |
Previously unidentified mutation |
| H (Canadian sporadic case) |
601_602insT |
P201fsX25 (Frameshift) |
5 |
TMV |
Previously unidentified mutation |
| I (Canadian sporadic case) |
547+2T->A |
Splice site mutation |
4 |
TMIV |
Previously unidentified mutation |
| J (Canadian sporadic case) |
886-2A->T |
Splice site mutation |
8 |
l3 |
Previously unidentified mutation |
Mayeur et al. BMC Medical Genetics 2006 7:41 doi:10.1186/1471-2350-7-41 |
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