Table 4 of
Bowne, Mol Vis 2003;
9:129-137.Table 4 of
Bowne, Mol Vis 2003;
9:129-137.
Table 4. Rare RP1L1 variants
Six additional variants within the RP1L1 coding region which alter the protein sequence were identified in the 60 adRP probands. These variants were not found in 120 normal chromosomes. Numbering is based on GenBank entry AY168341. Frequencies are based on the testing of 60 individuals with adRP.
Nucleotide Codon Protein
change change change Frequency
--------------- -------- ---------- ---------
166C->T CGC->TGC Arg56Cys 0.01
1870G->A GCC->ACC Ala624Thr 0.01
2383G->A GAG->AAG Glu795Lys 0.01
4514C->T TCG->TTG Ser1505Leu 0.02
4731_4733dupAAG 1578Lysdup 0.01
5837A->C GAG->GCG Glu1946Ala 0.02
|