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Fig. 1 | Genome Medicine

Fig. 1

From: Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Fig. 1

Vertical (ortholog) vs. horizontal (paralog) conservation. Top: protein sequence alignment of voltage-gated sodium channels. Top left: alignment of Homo sapiens (NP_001159435.1), Bos taurus (NP_001180147.1), and Mus musculus (NP_001300926.1) SCN1A protein sequences. High sequence similarity is depicted by violet amino acid coloring and yellow conservation bars below the alignment using JalView. Top right: protein alignment in JalView of all members of the human voltage-gated sodium channel gene family (SCN1A, SCN2A, SCN3A, SCN4A, SCN5A, SCN7A, SCN8A, SCN9A, SCN10A, SCN11A). This alignment of paralogs shows less conservation compared to the alignment of SCN1A to its vertical cross-species orthologs on the left. Bottom left: GERP score analysis over all genes within gene families (homolog conservation is measured by the percentage of all nucleotides per gene with GERP scores > 2). Bottom right: distribution percentage of nucleotides per gene within gene families having para_zscores > 0. Conservation between close homologs is generally much more uniform and homogeneous than conservation between paralogs

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