Sequence-based mutation analysis Gaucher Disease

The aim of this task was to carry out a thorough analysis of ten mutations and to classify them as disease-causing and non-disease causing. The mutations have been selected by another group from our [Researching SNPs Gaucher Disease|set of collected mutations] such that their impact had been unknown for us prior to this task. Technical details are reported in our protocol.

Mutations

<figtable id="tab:mutations">

Nr	Position	From	To
1	99	H	R
2	211	V	I
3	150	E	K
4	236	L	P
5	248	W	R
6	534	R	C
7	351	W	C
8	423	A	D
9	482	D	N
10	83	R	S

</figtable>