A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson’s Disease with Dementia

Table 1

Functional mutations obtained by 25 gene-panel NGS in patient II.5.

Genes	Exon	Coding	Genotype	Amino acid change	Variant effect	dbSNP	MAF	Control chromosomes	CADD	ClinVar
DNAJC13	38	c.4387G > T	T/T	p.Ala1463Ser	Missense	rs3762672	0.273	25/40	18.78	NPC
EIF4G1	10	c.1315A > G	G/G	p.Met439Val	Missense	rs2178403	0.22	36/40	2.716	Benign
PARK2	10	c.1138G > C	C/G	p.Val380Leu	Missense	rs1801582	0.144	05/40	2.420	Benign
LRRK2	49	c.7190T > C	T/C	p.Met2397Thr	Missense	rs3761863	0.45	24/40	1.618	Benign
VPS13C	64	c.8738G > A	C/T	p.Ser2913Asn	Missense	rs10851704	0.461	20/40	19.03	NPC
VPS13C	29	c.2921G > A	C/T	p.Arg974Lys	Missense	rs3784634	0.282	27/40	16.27	NPC
POLG	23	c.3708G > T	C/A	p.Gln1236His	Missense	rs3087374	0.037	06/40	21.4	Benign
MAPT	6	c.605C > T	C/T	p.Pro202Leu	Missense	rs63750417	0.117	02/40	13.58	Benign
MAPT	6	c.853G > A	G/A	p.Asp285Asn	Missense	rs62063786	0.117	02/40	8.095	Benign
MAPT	6	c.866T > C	T/C	p.Val289Ala	Missense	rs62063787	0.117	02/40	0.539	Benign
MAPT	6	c.1108C > T	C/T	p.Arg370Trp	Missense	rs17651549	0.116	02/40	24.4	Benign
MAPT	8	c.1321T > C	T/C	p.Tyr441His	Missense	rs2258689	0.324	18/40	15.38	Benign
MAPT	8	c.1339T > C	T/C	p.Ser447Pro	Missense	rs10445337	0.117	02/40	18.32	Benign
SYNJ1	8	c.1001A > G	T/C	p.Lys334Arg	Missense	rs2254562	0.292	11/40	27.1	NPC

NPC: not provided in ClinVar.