c.3175dup (p.Ile1059AsnfsX11)
SMC
|
RNA stability |
0/>95 |
not mentioned |
The mRNA produced might be targeted for nonsense mediated decay (NMD).
This duplication creates a frame shift starting at codon Ile1059. The new reading frame ends in a STOP codon 10 positions downstream.
A197 II-1 |
A197 |
|
|
Denmark |
JS + retina |
unknown |
no |
|
Exon 29 |
3175-3176insA |
I1059fsX1069 |
Direct sequencing (Sanger) |
Exon 55 |
7341-7342insA |
L2448fsX2455 |
Direct sequencing (Sanger) |
Sayer (2006) |
726 |
|
|
3 y |
France |
LCA |
unknown |
unknown |
|
Exon 28 |
c.3175insA |
p.Ile1059AsnfsX10 |
DHPLC |
Intron 26 |
c.2991+1655A>G |
p.Cys998X |
DHPLC |
Perrault (2007) |
MTI118 |
|
female |
12 y |
Ireland |
CORS |
unknown |
no |
|
Exon 28 |
3167_3175insA |
I1055fsX1069 |
DHPLC |
Exon 41 |
5668G>T |
G1890X |
DHPLC |
Brancati (2007) |