Skip to main content
Fig. 5 | Genome Medicine

Fig. 5

From: Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory

Fig. 5

WNK1 NM_018979.3:c.1903G > A, p.(Asp635Asn). The upper part of the figure shows results of ELM analysis (http://elm.eu.org) for residues 601–700 of native WNK1 (left) and the p.(Asp635Asn) variant (right); upper tracks show predicted sites of phosphorylation (PhosphoELM), conserved domains (SMART/Pfam) and underlying structure or disorder (GlobProt, IUPRED, Secondary Structure tracks); below these tracks are lists of matches to short linear motifs, ranked by score with red shading indicating high confidence; the top hit (and only high confidence scoring motif) in the native sequence was for the Kelch-binding degron motif, DEG_Kelch_KLHL3_1 (boxed in red); this motif was not identified in the variant sequence (upper right panel). The table below shows a detailed description from the ELM server of the DEG_Kelch_KLHL3_1 motif; the right column shows the search pattern for this motif, which is shown below in the context of the WNK1 sequence (Asp635 shown in red font)

Back to article page