Fig. 1: Localization of LARS1 variants and most prevalent clinical findings in the study cohort. | Genetics in Medicine

Fig. 1: Localization of LARS1 variants and most prevalent clinical findings in the study cohort.

From: Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Fig. 1

(a) All known pathogenic variants including affected region of LARS1 protein. Novel variants are displayed in red, previously published variants present in our patients in bold. (b) Density plot of known pathogenic variants with respect to affected protein domains. (c) In silico effect prediction of LARS1 missense variants using REVEL score. (d) Most prevalent clinical signs within our cohort present in at least ten patients and 50% of analyzed individuals. Recurrent elevation of transaminases includes episodes of acute liver failure; neurodevelopmental delay includes motor and language delay as well as learning disabilities. IUGR intrauterine growth restriction, SGA small for gestational age.

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