752bp deletion within CNT1, removing coding exon 1, all of exon 2 and part of exon 3. This deletes 477bp of the open reading frame. An amino acid at the deletion break site is substituted (Tyr to Ser).
Net deletion of 477 bases in (encoding 129 amino acids) and substitution of a base iat the junction leading to a Y to S substitution in CNT1 . The mapped location of the deletion was deduced from the description, which is at the amino acid level but not at the nucleotide level.
TC