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Mutation Database
Mutations of the Protein Kinase C g

Recent update from: 25.07.99


Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks
Mutation Database OMIM Reference
ADRP, RP11 Ser 659 Arg AGC-AGA
18 +AciI
CM981595
(1)
Polymorphism Asn 189 Asn AAT-AAC





(1)
Polymorphism Gly 411 Gly GGC-GGT





(1)
Polymorphism Phe 647 Phe TTT-TTC
18



(1)
Rare Variant Arg 141 Cys






(1)
Rare Variant His 415 Gln






(1)
Rare Variant Ala 523 Asp






(1)
Rare Variant IVS16+39inst ins t
IVS16



(1)

References

1. al Maghtheh, M., Vithana, E.N., Inglehearn, C.F., Moore, T., Bird, A.C., and Bhattacharya, S.S. Segregation of a PRKCG mutation in two RP11 families [letter]. 1998; Am.J.Hum.Genet. 62: 1248 - 1252.
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