Table 3.
Single nucleotide polymorphisms in the LAMB2 gene
| Exon/Intron | DNA varianta | Predicted and/or demonstrated effect on protein | Status | Protein domain |
|---|---|---|---|---|
| Exon 3 | c.306C>T | p.= | novel | LN |
| Intron 3 | c.250-97A>G | - | novel | - |
| Exon 8 | c.1014C>T | p.= | novel | LEa1 |
| Exon 14 | c.1764C>T | p.= | rs33942096 | LF |
| Intron 14 | c.1890+25G>A | - | rs9865051 | - |
| Exon 16 | c.2034T>C | p.= | novel | LF |
| Exon 17 | c.2307C>T | p.= | novel | LF |
| Intron 18 | c.2489-62C>T | - | novel | - |
| Exon 19 | c.2673C>T | p.= | novel | LEb3 |
| Exon 20 | c.2740G>A | p.G914R | rs35713889 | LEb3 |
| Exon 20 | c.2754G>T | p.= | novel | LEb3 |
| Exon 21 | c.2959G>A | p.E987K | rs34759087 | LEb5 |
| Intron 21 | c.3110-15T>C | - | novel | - |
| Intron 22 | c.3327+28T>C | - | novel | - |
| Intron 22 | c.3328-36T>G | - | novel | - |
| Exon 23 | c.3387A>G | p.= | rs34290943 | LEb7 |
| Exon 24 | c.3645G>A | p.= | rs13082063 | LCC |
| Exon 24 | c.3727G>C | p.G1243R | novel | LCC |
| Exon 25 | c.3858G>T | p.= | rs34967349 | LCC |
| Exon 26 | c.4140C>A | p.N1380K | novel | LCC |
| Intron 26 | c.4224+19G>A | - | novel | - |
| Intron 27 | c.4573+26A>G | - | novel | - |
| Intron 29 | c.4923+17A>G | - | novel | - |
| Intron 29 | c.4923+49G>A | - | novel | - |
| Intron 29 | c.4924-35G>A | - | rs72936885 | - |
| Exon 32 | c.5293G>A | p.A1765T | novel | LCC |
*
The numbering for the nucleotide changes are based on cDNA sequence in accordance with the GenBank entries NM_002292.3, NP_002283.3, and NT_022517.18 (GRCh37).
a
For cDNA numbering, +1 corresponds to the A of the ATG translation initiation codon in the reference sequence