Table 2.
Mutation spectrum of EYS gene in Spanish families
| Family ID | Nucleotide change | Predicted effect | Domains | Location in gene | Type of change | Reference of the variation |
|---|---|---|---|---|---|---|
| Families with novel very likely pathogenic changes and both alleles affected | ||||||
| RP1052M | c.[1300-17039_1599+22208del]+[9178_9181delATAA] | p.Y433_E533del | EGF-like | Exons 9 and 10 | Heterozygous | This study |
| p.N3061TfsX3 | LamininG | Exon 43 | Heterozygous | This study | ||
| RP1237M | c.[2234A>G] + [7919G>A] | p.N745S | EGF | Exon 14 | Heterozygous | This study |
| p.W2640X | EGF | Exon 41 | Heterozygous | This study and Abd El-Aziz et al., 2008 | ||
| RP84B | c.6050G>T | p.G2017V | LamininG | Exon 29 | Homozygous | This study |
| RP136B | c.[6632C>T] + [8834G>A] | p.S2211L + p.G2945E | LamininG | Exon 33 | Heterozygous | This study |
| EGF | Exon 43 | Heterozygous | This study | |||
| RP367B | c.[4120C>T] + [6424+1G>T] | p.R1374X | Close to EGF | Exon 26 | Heterozygous | This study |
| Splice mutation | Intron 31 | Heterozygous | This study | |||
| Family ID | Nucleotide change | Predicted effect | Domains | Location in gene | Type of change | Reference of the variation |
|---|---|---|---|---|---|---|
| Families with single novel very likely pathogenic changess | ||||||
| RP358B | c.7361delA | p.H2454PfsX8 | LamininG | Exon 37 | Heterozygous | This study |
| RP60 | c.78_79dupGC | p.Q27RfsX16 | Signal peptide cleavage site | Exon 4 | Heterozygous | This study |
| RP180M | c.862-10671_1766+100 20del | p.G288DfsX21 | EGF | Exons 6-11 | Heterozygous | This study |
| RP33 | c.4451G>A | p.W1484X | Close to coiled-coil | Exon 26 | Heterozygous | This study |
| RP81 | c.2234A>G | p.N745S | EGF | Exon 14 | Heterozygous | This study |
| Families with novel possible pathogenic changes | ||||||
|---|---|---|---|---|---|---|
| VRP8 | c.4450T>C | p.W1484R | Close to coiled-coil | Exon 26 | Heterozygous | This study |
| RP383 | c.7507G>A | p.E2503K | LamininG | Exon 38 | Heterozygous | This study |
| RP228B | c.-462G>C | - | - | Exon 1 5′UTR | Homozygous | This study |
| RP107B | c.-204G>A | - | - | Exon 3 5′UTR | Heterozygous | This study |
| RP509M | c.-349G>T | - | - | Exon 2 5′UTR | Heterozygous | This study |
| Families with very likely pathogenic changes reported in other populations | ||||||
|---|---|---|---|---|---|---|
| RP155B | c.6714delT | p.I2239SfsX17 | LamininG | Exon 33 | Homozygous | This study Collin et al., 2008. |
| RP194B | c.9405T>A | p.Y3135X | LamininG | Exon 43 | Homozygous | This study Collin et al., 2008. |
GenBank Reference Sequence and Version FJ416331; GI: 212675237; Transcript Reference Sequence: NM_001142800.1 Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequence, according to journal guidelines (http://www.hgvs.org/mutnomen). The initiation codon is codon 1.