c.1620T>A

Mutation Description

This mutation consists of a transversion from C to T at c.1620 in exon 11.

Mutation Effect

This mutation is a nonsense mutation, resulting in TYR463TER yielding a predicted 462 residue protein.

Sequence context

AspThrSerTyrValIleGlu > AspThrSerTerGATACGTCCTATGTAATTGAG > GATACGTCCTAAGTAATTGAG

Cell Line and Pedigree Information

Japanese Mutation 9

Reference(s)

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

   

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