Table 1.
FAM161A Mutations in Patients with Retinitis Pigmentosa
Index Patient ID | Ethnic Origin | Exon | Nucleotide Change | Allele Status | Protein Variant |
---|---|---|---|---|---|
V-4 | Indian | 3 | c.685C>T | homozygous | p.Arg229X |
M09-0352 | German | 3 | c.1309A>T | homozygous | p.Arg437X |
arRP173 | German | 3 | c.1309A>T | homozygous | p.Arg437X |
arRP323 | German | 3 | c.1309A>T | homozygous | p.Arg437X |