Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease

Table 2

Reported variants in the 272nd codon of the PRKN gene.

Nucleotide change	Amino acid change	Identifier	MAF (gnomAD)	Hydropathy index	SIFT		CADD score^a	Reported patients^b
					Score	Prediction
c.815T > G	p.L272R	—	—	−4.5	0.00	Damaging	29.2	1
c.814C > T	p.L272F	rs141366047	3.980 × 10^−6	2.8	0.00	Damaging	25.6	—
c.814C > G	p.L272V	rs141366047	1.194 × 10^−5	4.2	0.05	Damaging	24.4	—
c.814C > A	p.L272I	rs141366047	9.553 × 10^−5	4.5	0.01	Damaging	25.1	—
c.816C > T	p.L272 =	rs143902760	1.322 × 10^−3	3.8	—	—	9.553	—

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.