Favorite

Mutation Direct

Effortless mutation search and display tool

Search criteria：

Gene: PRNP & Disease: FFI, 79 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
13398	PRNP	c.598G>A	p.Glu200Lys (p.E200K)	NM_000311.5 M	SNV	P	3 +	42
	PRNP	c.598G>A	p.Glu200Lys (p.E200K)	NM_001080121.3	SNV	P	3 +	42
	PRNP	c.598G>A	p.Glu200Lys (p.E200K)	NM_001080122.3	SNV	P	3 +	42
	PRNP	c.598G>A	p.Glu200Lys (p.E200K)	NM_001080123.3	SNV	P	3 +	42
	PRNP	c.*287G>A	--	NM_001271561.3	SNV	P	3 +	42
	PRNP	c.598G>A	p.Glu200Lys (p.E200K)	NM_183079.4	SNV	P	3 +	42
13397	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_000311.5 M	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_001080121.3	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_001080122.3	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_001080123.3	SNV	LB	10 +	37
	PRNP	c.*74A>G	--	NM_001271561.3	SNV	LB	10 +	37
	PRNP	c.385A>G	p.Met129Val (p.M129V)	NM_183079.4	SNV	LB	10 +	37
13405	PRNP	c.538G>A	p.Val180Ile (p.V180I)	NM_000311.5 M	SNV	P	8 +	21
	PRNP	c.538G>A	p.Val180Ile (p.V180I)	NM_001080121.3	SNV	P	8 +	21
	PRNP	c.538G>A	p.Val180Ile (p.V180I)	NM_001080122.3	SNV	P	8 +	21
	PRNP	c.538G>A	p.Val180Ile (p.V180I)	NM_001080123.3	SNV	P	8 +	21
	PRNP	c.*227G>A	--	NM_001271561.3	SNV	P	8 +	21
	PRNP	c.538G>A	p.Val180Ile (p.V180I)	NM_183079.4	SNV	P	8 +	21
13403	PRNP	c.628G>A	p.Val210Ile (p.V210I)	NM_000311.5 M	SNV	P	7 +	20
13403	PRNP	c.628G>A	p.Val210Ile (p.V210I)	NM_001080121.3	SNV	P	7 +	20

79 Results, 20 per Page

Comparison