Table 3

Results of mutation analysis at the genomic DNA level of the CRB1 gene

MutationsSequence variationCdExonEffectCosegregation
*Not previously reported change; nc: non-conservative change; scc: synonymous codon change; c: conservative change
M-717*nt 47881 ins G160-1612168 Stop+
M-489*nt 614 T>C2052Ile205Thr (nc)+
M-641*nt 224447 del 3bp7497delSer+
B-102*nt 2671 T>G8917Cys891Gly+
M-69/M-641nt 2843 G>A9489Cys948Tyr+
B-15*nt 288288 del 3bp9629delLeu+
B-102/M-69*nt 3299 T>C11009Ile1100Thr (nc)+
Rare sequence variants
M-43nt 867 C>T2894Thr289Met (nc)-
V-4/M-489nt 1410 G>A4704Leu470Leu (scc)-
B-141nt 1647 T>C5496Asn549Asn (scc)-
M-180*nt 2035 C>G6796Gln679Glu (nc)-
B-50nt 2306 G>A7697Arg769His (c)-
M-68nt 3171 C>T10579Asn1057Asn (scc)-
M-40nt 3992 G>A133111Arg1331His (c)-
M-695′UTR-268 G>A
Polymorphic intronic variants