Research Article
Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease
Table 1
Reported variants in the 240th codon of the PRKN gene.
| | Nucleotide change | Amino acid change | Identifier | MAF (gnomAD) | SIFT | CADD scorea | Reported patientsb | | Score | Prediction |
| | c.719C > A | p.T240K | rs137853054 | 7.954 × 10−6 | 0.01 | Damaging | 23.6 | 1 | | c.719C > T | p.T240M | rs137853054 | 3.465 × 10−4 | 0.00 | Damaging | 23.8 | 13 [6, 14–20] | | c.719C > G | p.T240R | — | — | 0.00 | Damaging | 23.4 | 1 [21] | | c.718A > G | p.T240A | — | — | 1.00 | Tolerated | 14.97 | 2 [15] | | c.718A > T | p.T240S | rs1194371893 | 7.954 × 10−6 | 0.03 | Damaging | 21.8 | — | | c.720G > A | p.T240= | rs769882260 | 3.536 × 10−5 | — | — | 5.479 | — | | c.720G > C | p.T240= | rs769882260 | 3.977 × 10−6 | — | — | 4.599 | — |
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MAF, minor allele frequency; gnomAD, Genome Aggregation Database; SIFT, Sorting Intolerant from Tolerant; CADD, Combined Annotation Dependent Depletion. aPHRED-scaled CADD score. bReported patients with PRKN variants in homozygous or compound heterozygous states.
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