Complex deletion

Mutation Description

This mutation consists of the deletion of 1 copy of a 4 bp tandem repeat that spans the last 2 bp of intron 31 and the 1^st 6 bp of exon 32.

Mutation Effect

This mutation results in the creation of a new splice site within exon 32, causing the c.3919-3922del mutation (loss of the 1st 4 bp of exon 32 or i.e. bp 2-6 of 4 bp tandem repeat) to be observed by RT-PCR. The resulting frameshift causes addition of 15 new amino acids after THR1230 followed by premature termination and a predicted 1245 residue protein.

Sequence context

           ThrAspLeuPheSer >            ThrSerPheGlnValGln..NLKKNRRRVW..TertaattctgtagACAGACCTCTTTTCA > taattctgtagACCTCTTTTCAAGTACAA

Cell Line and Pedigree Information

SYR

Reference(s)

• Yu, C. E., et al., Science 272:258-262, (1996).
• Oshima, J., et al., Hum. Mol. Genet. 5:1909-1913, (1996).

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