c.3677delA

Mutation Description

This mutation consists of the deletion of an A at c.3677 in exon 30.

Mutation Effect

This mutation results in a frameshift, causing the addition of 12 new amino acids after GLN1148, followed by premature termination of a predicted 1160 residue protein.

Comments

The c.3677delA mutant uses the same stop codon as the IVS29-7T>Amutant.

Sequence context

IsoSerAlaGlnGluGlnGluThr > IsoSerAlaGlnGlyArgArgLeuRLCYMANWTerATTTCGGCACAAGAGCAGGAGACT > ATTTCGGCACAAGGCAGGAGACTC

Cell Line and Pedigree Information

Japanese mutation 7

Reference(s)

• Masumoto, T., et al. Hum. Genet. 100:123-130 (1997)

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