Table 4 of
van den Hurk, Mol Vis 2005;
11:263-273.Table 4 of
van den Hurk, Mol Vis 2005;
11:263-273.
Table 4. Sequence variants detected in the CRB2 gene
Mutation analysis of the CRB2 open reading frame and splice junctions in 85 RP patients and 79 LCA patients revealed 11 amino acid substitutions, 14 synonymous codon changes, and 14 sequence variants in the untranslated regions and introns. Numbering is based on GenBank entry AY720432.
Nucleotide Amino acid RP alleles LCA alleles
Location change change (n=170) (n=158)
--------- ---------- ---------- ---------- -----------
Amino acid substitutions
exon 2 137C>T P46L 0 1
exon 2 289G>C V97L 0 1
exon 2 347C>T P116L 0 1
exon 3 434T>C M145T 60 44
exon 3 476G>C G159A 60 41
exon 3 561G>C E187D 0 1
exon 6 1051G>A A351T 1 0
exon 7 1601G>A R534Q 1 0
exon 7 1828C>T R610W 0 2
exon 8 2238C>G H746Q 1 0
exon 10 3329C>T T1110M 12
Synonymous codon changes
exon 1 61C>T L21L 2 2
exon 2 315C>T C105C 1 0
exon 3 465C>T C155C 0 1
exon 3 516C>T C172C 0 1
exon 6 993C>T N331N
exon 7 1428T>G T476T 0 2
exon 7 1587G>A A529A 46 57
exon 7 1920C>T C640C 8 5
exon 8 2076C>T S692S 49 57
exon 8 2130G>A P710P 1 0
exon 9 2523G>A T841T
exon 10 2748C>T A916A 1 0
exon 10 3021T>C A1007A 11 9
exon 10 3126G>C A1042A 13
Variations in UTRs and introns
5' UTR -16_-22del 113 78
intron 2 419-24C>G 0 1
intron 3 614+13C>T 1 1
intron 3 614+23G>A 1 0
intron 4 754+9G>A 1 0
intron 4 754+34G>C 45
intron 6 1054+15G>A 0 1
intron 6 1055-58T>C 51 61
intron 9 2603-35C>T 2 0
intron 10 3390-60C>T 0 1
intron 11 3507-14C>A 1 2
intron 12 3633+14G>A 1 0
intron 12 3633+17G>T 1 0
intron 12 3634-52G>A
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