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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

Fig. 3

Distribution of disease-causing mutations in neurofibromin domains in patients with. Mild (Green arrow), moderate (Yellow arrow) and severe (Red arrow) phenotype. CSRD: cysteine–serine-rich domain; TBD: tubulin-binding domain; GRD: GTPase-activating protein-related domain; S1: syndecan binding domain 1; PH: pleckstrin homology domain; CTD: carboxy-terminal domain; S2: syndecan binding domain 2; SEC14/ SEC14p: Sec14-like lipid binding module. For the mutation localized outside the known domain, the specific exon localization is reported

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