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Please help us keep this database up to date by submitting new details about mutations. This could include submitting a mutation not already in the database, correcting information about a mutation, or adding new information or references.

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Mutation
Region:	5' E1 I1 E2 I2 E3 I3 E4 I4 E5 I5 E6 I6 E7 I7 E8 PA
Nucleotide:
Base Change:	ins.del.A>C>G>T> ACGT
	Other:
Amino Acid Change:	Substitution term ala A cys C asp D glu E phe F gly G his H ile I lys K leu L met M asn N pro P arg R gln Q ser S thr T val V trp W tyr Y --> term ala A cys C asp D glu E phe F gly G his H ile I lys K leu L met M asn N pro P arg R gln Q ser S thr T val V trp W tyr Y        (e.g. pro 82 --> leu)
	Frame shift
	Other:
ASA Activity:
Phenotype:
Ethnicity:
Remarks:
Reference
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Category: Select multiple using the CTRL key	Clinical Presentation Treatment Biochemical Analysis Animal Studies Reviews Human Mutation Other