Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation

Lee, Sol Moe; Chung, Myungguen; Hwang, Kyu Jam; Ju, Young Ran; Hyeon, Jae Wook; Park, Jun-Sun; Kim, Chi-Kyeong; Choi, Sangho; Lee, Jeongmin; Kim, Su Yeon

doi:10.1186/1755-8794-7-52

Table 1 The information of the 24 sites that were directly sequenced and the genotypes of analysed individuals

From: Biological network inferences for a protection mechanism against familial Creutzfeldt-Jakob disease with E200K pathogenic mutation

				PRNP mutation	E200K	E200K	E200K	E200K	WT	E200K	E200K	E200K	WT	E200K	WT	E200K	WT	E200K	WT	WT	WT	WT	WT	WT	E219K	WT	WT	WT	WT
				Sample ID	Patient no. 1	Patient no. 2	Patient no. 3	Family no. 1	Family no. 2	Family no. 3	Family no. 4	Family no. 5	Family no. 6	Family no. 7	Family no. 8	Family no. 9	Family no. 10	Family no. 11	Family no. 12	Normal no. 1	Normal no. 2	Normal no. 3	Normal no. 4	Normal no. 5	Normal no. 6	Normal no. 7	Normal no. 8	Normal no. 9	Normal no. 10
Variants filtering strategy	Chr.	Position	Gene	Year of birth Ref./Obs.	1948	non-descript	1935	1927	1950	1952	1955	1957	1962	1969	1971	1975	1977	1981	1983	1969	1975	1976	1977	1980	1982	1983	1983	1984	1987
Filtering strategy 1	1	27,268,000	NUDC	G/A	GG	GG	GG	GA	GG	GA	GA	GA	GG	GG	GG	GG	GG	GA	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG
	1	42,049,603	HIVEP3	C/T	CC	CC	CC	CT	CT	CC	CC	CC	CT	CC	CC	CC	CC	CC	CC	CC	CT	CC	CC	CC	CC	CC	CC	CC	CC
	2	64,199,317	VPS54	G/A	GG	GG	GG	GA	GG	GG	GA	GA	GA	GG	GG	GG	GA	GA	GG	GG	GG	GA	GG	GG	GG	GG	GG	GG	GG
	2	233,346,498	ECEL1	C/T	CC	CC	CC	CT	CC	CC	CC	CC	CT	CC	CC	CC	CC	CC	CC	CC	CT	CC	CC	CT	CT	CC	CC	CC	CC
	3	124,896,625	SLC12A8	A/G	AA	AA	AA	AG	AG	AA	AG	AG	AA	AA	AA	AA	AG	AG	AG	AA	AA	AA	AA	AA	AA	AA	AA	AA	AA
	4	187,153,290	KLKB1	C/T	CC	CC	CC	CT	CC	CC	CT	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
	5	139,884,478	ANKHD1-EIF4EBP3	G/C	GG	GG	GG	GC	GG	GG	GG	GG	GC	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG
	6	159,185,617	SYTL3	T/C	TT	TT	TT	TC	TC	TC	TT	TC	TT	TT	TT	TT	TT	TC	TC	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT
	8	2,088,717	MYOM2	G/T	GG	GG	GG	GT	GT	GT	GT	GG	GT	GG	GG	GG	GT	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG
	9	18,950,859	FAM154A	C/T	CC	CC	CC	CT	CT	CT	CT	CC	CT	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
	10	24,831,649	KIAA1217	C/T	CC	CC	CC	CT	CT	CT	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
	11	27,016,411	FIBIN	A/G	AA	AA	AA	AG	FL	AA	AG	AG	AG	AA	AA	AA	AA	AG	AA	AA	AA	AG	AA	AA	AA	AA	AA	AA	AG
	11	36,250,774	LDLRAD3	G/T	GG	GG	GG	GT	GG	GT	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG
	11	64,453,195	NRXN2	C/A	CC	CC	CC	CA	CC	CA	CA	CA	CC	CC	CC	CC	CC	CA	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
	13	39,588,100	PROSER1	G/A	GG	GG	GG	GA	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG
	16	75,669,878	KARS	A/G	AA	AA	AA	AG	AG	AA	AA	AG	AA	AA	AA	AA	AA	AA	AG	AA	AA	AA	AA	AA	AA	AA	AA	AA	AA
	17	59,489,425	C17orf82	C/G	CC	CC	CC	CG	CG	CG	CC	CG	CG	CC	CC	CC	CC	CC	CG	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
	18	21,485,578	LAMA3	G/C	GG	GG	GG	GC	GC	GC	GC	GG	GC	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG	GG
	19	4,359,190	MPND	C/T	CC	CC	CC	CT	CT	CT	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
Filtering strategy 2	17	45,219,336	CDC27	T/A	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT
	19	501,786	MADCAM1	C/A	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC	CC
	19	50,510,999	VRK3	A/T	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT
	19	50,511,000	VRK3	C/T	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT	TT
	19	52,096,053	AC018755.11	T/A	TA	TA	TA	AA	TA	TA	TA	TA	TA	AA	TA	TT	TA	TA	TA	AA	TA	TA	TT	AA	TT	TA	TA	TA	TT

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