Fig. 2: Segregation and in silico functional characterization of a missense RV in a MODY gene (KCNJ11) in four Sikh families. | Communications Medicine

Fig. 2: Segregation and in silico functional characterization of a missense RV in a MODY gene (KCNJ11) in four Sikh families.

From: Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families

Fig. 2

A Pedigrees of Sikh families show the representation of a new rare damaging variant rs41282930 (Ser385Cys) in KCNJ11 gene segregating with T2D; mutant carriers of this variant are shown in red squares; B Sequence alignment reveals absolute conservation of rs41282930 at position Ser385Cys of the KCNJ11 gene across species; C Allele frequency of Ser385Cys among different populations; D The wildtype residue (blue) forms hydrogen bonds with Serine at position 383. However, the mutant residue (red) Cysteine forms hydrogen bonds not only with Serine 383 but also with Isoleucine at position 384.

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