Nucleotide substitution: G?A. The splice site acceptor of intron 8 has been mutated from TTCAGG to TTCAAG. This leads to a peptide truncated at amino acid 635.
G720321A
G?A
The splice acceptor has been mutated from TTCAGG to TTCAAG. This leads to a peptide truncated at amino acid 635.
@splice_acceptor_mutation ; SO:1000073
Allelic series based on mutant phenotype; ey11 > eyD1Da > eyEH > eyJD.