Variant VAR_023659 | SNPeffect 4.0

All mutations from PEO1_HUMAN

38 mutations listed

Variant	UniProt ID	Mutation	Disease	Mutation Type	dTANGO	dWALTZ	dLIMBO	ddG
VAR_065111	PEO1_HUMAN	F370L	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	-1	-1	0	N.A.
VAR_065110	PEO1_HUMAN	F370C	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	-1	-1	0	N.A.
VAR_065109	PEO1_HUMAN	W363L	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	0	0	0	N.A.
VAR_065117	PEO1_HUMAN	F478I	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	1	0	0	N.A.
VAR_065116	PEO1_HUMAN	A475D	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	1	0	0	N.A.
VAR_065107	PEO1_HUMAN	L360G	Mitochondrial DNA depletion syndrome type 7 (MTDPS7)	Disease	0	0	4	N.A.
VAR_023654	PEO1_HUMAN	A359T	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	0	0	-64	N.A.
VAR_065118	PEO1_HUMAN	E479K	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	-1	0	0	N.A.
VAR_023661	PEO1_HUMAN	W474C	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	0	0	0	N.A.
VAR_043797	PEO1_HUMAN	Y508C	Mitochondrial DNA depletion syndrome type 7 (MTDPS7)	Disease	-122	-20	0	N.A.
VAR_065103	PEO1_HUMAN	W315S	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	0	0	317	N.A.
VAR_065115	PEO1_HUMAN	W474S	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	0	0	0	N.A.
VAR_065113	PEO1_HUMAN	Q458H	Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3)	Disease	-35	0	-131	N.A.