Table 1 PIEZO1 mutations found in the... | American Society of Hematology

Table 1

PIEZO1 mutations found in the families here analyzed

Family (code)	DHSt	FP	PO	Nucleotide mutations	Amino acid mutations*	Genotype		Reference
Family (code)	DHSt	FP	PO	Nucleotide mutations	Amino acid mutations*	Allele 1*	Allele 2	Reference
Arras (AR)	+	+		c.7463 G>A	p.R2488Q	p.R2488Q	WT	15
Arras (AR)				c.2152 G>A	p.G718S	p.G718S	WT	15
Edinburgh	+	+		c.6380 C>T	p.T2127M	p.T2127M	WT	20
Essex	+			c.3350 C>T	p.S1117L	p.S1117L	WT	14
Essex				c.6059 C>T	p.A2020V	p.A2020V	WT	14
Dax (DA)	+			c.6495-6508delAGA	p.2166-2169 delK	p.2166-2169 delK	WT	15
Bicetre (BI)	+	+	+	c.1848+31C>G			WT	15
				c. 2344 G>A	p.G782S	p.G782S	WT
				c. 2423 G>A	p.R808Q	p.R808Q	WT
Troyes (TR)	+			c.6008 C>A	p.A2003D	p.A2003D	WT	15
San Francisco (SF)				c.7367 G>A	p.R2456H	p.R2456H	WT	Unpublished

Family (code)	DHSt	FP	PO	Nucleotide mutations	Amino acid mutations*	Genotype		Reference
Family (code)	DHSt	FP	PO	Nucleotide mutations	Amino acid mutations*	Allele 1*	Allele 2	Reference
Arras (AR)	+	+		c.7463 G>A	p.R2488Q	p.R2488Q	WT	15
Arras (AR)				c.2152 G>A	p.G718S	p.G718S	WT	15
Edinburgh	+	+		c.6380 C>T	p.T2127M	p.T2127M	WT	20
Essex	+			c.3350 C>T	p.S1117L	p.S1117L	WT	14
Essex				c.6059 C>T	p.A2020V	p.A2020V	WT	14
Dax (DA)	+			c.6495-6508delAGA	p.2166-2169 delK	p.2166-2169 delK	WT	15
Bicetre (BI)	+	+	+	c.1848+31C>G			WT	15
				c. 2344 G>A	p.G782S	p.G782S	WT
				c. 2423 G>A	p.R808Q	p.R808Q	WT
Troyes (TR)	+			c.6008 C>A	p.A2003D	p.A2003D	WT	15
San Francisco (SF)				c.7367 G>A	p.R2456H	p.R2456H	WT	Unpublished

PO, perinatal edema; +, presence of the clinical characteristics.

Novel mutations are highlighted in bold.