Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in <i>BBS2</i> in a Kashmiri Family with Bardet-Biedl Syndrome

<div>Comparison of wild-type BBS2 protein structure with its mutant form. 3D model of (a) wild- and (b) mutant-type BBS2 protein. (c) Superimposed structures of wild-type BBS2 protein and its mutant having mutation at position 148 showing the shortage of <i>α</i>-helix. (d) Close-up of the mutation.</div>

BioMed Research International

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Figure 4

Figure 4: Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in <i>BBS2</i> in a Kashmiri Family with Bardet-Biedl Syndrome 

BioMed Research International

Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Figure 4