Table 1.

In silico mutation analysis by PROVEAN and MutationTaster tools of the Asn282del mutation.

Gene	Reference sequence	Location	DNA Change	Amino acid variation	PROVEAN∗	MutationTaster∗
ITGB2	NM_000211.5	Exon 7	c.844_846delAAC	p.Asn282del	Deleterious (-12.65)	Disease causing (0.99)

^∗Prediction (score).