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Fig. 1 | BMC Neurology

Fig. 1

From: Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis

Fig. 1

First variant (a): ALDH4A1 gene (NM_003748.3) Intron 1: c.62 + 1G > A heterozygous. This variant affects a canonical nucleotide of the splice donor site of intron 1 and is therefore thought to lead to aberrant splicing. Second variant (b): ALDH4A1 gene (NM_003748.3) Exon 5 c.349G > C, p.(Asp117His) heterozygous. This missense variant affects a highly conserved residue in the dehydrogenase domain of the protein. Furthermore, three out of four in silico predictions applied (SIFT, MutationTaster, Polyphen-2) support the role of this sequence alteration as a pathogenic variant

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