Table 1 of
Varsanyi, Mol Vis 2005;
11:996-1001.Table 1 of
Varsanyi, Mol Vis 2005;
11:996-1001.
Table 1. Mutations in Hungarian achromatopsia patients
Nucleotide sequence position based on GenBank accession numbers AF065314 (CNGA3) and AF272900 (CNGB3) with the adenosine of the annotated start codon denoting nucleotide position 1.
Exon/ Alteration in Alteration in
Gene intron nucleotide sequence polypeptide/mRNA
----- --------- ------------------- -----------------
CNGA3 Exon 5 c.488C>T Pro163Leu
CNGA3 Exon 7 c.847C>T Arg283Trp
CNGA3 Exon 7 c.1641C>T Phe547Leu
CNGB3 Exon 1 c.112C>T Gln38X
CNGB3 Exon 6 c.819_826del8bp Pro273fs
CNGB3 Exon 10 c.1148delC Thr383fs
CNGB3 Intron 14 c.1663-5T>G Splicing mutation
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