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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

Fig. 2

Genetic analysis of the family. a Sanger DNA sequencing chromatogram demonstrates the heterozygosity for a NOG mutation (c.690C > G/p.C230W). b Analysis of the mutation and protein domains of Noggin. The C230 affected amino acid locates in the highly conserved amino acid region in different mammals (from Ensembl). The black arrow and red words show the C230 site. c Swiss-model analyzed the Noggin structures of WT and Mutated (p.C230W). d The healthy hands of III-3 and normal sequences of amniotic fluid DNA

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BMC Medical Genetics

ISSN: 1471-2350

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