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A retrospective series of 126 HX cases
Table 1. Heterozygous rare PIEZO1 coding sequence variations identified in families with hereditary xerocytosis. (overall allele frequency <5% as reported in the GnomAD v2.0.1 database, http://www.gnomad.broadinstitute.org).
Mutation in Predicted mutation effect scores
VariantdbSNP NM_001142864.2 Exon Aminoacid Frequency Cons PolyPhen-2 SIFT MT Predicted n Reported
GnomAD %
3.86
0
0
0.0016
0
0
nt HumVar AA
score value pathogenicity family (subject)§
143 (2)
121 (1)
132 (1)
155 (3)
19 (1)
227,52 (4)
114 (1)
111 (2)
147 (4)
147 (4)
134 (1)
138 (2)
158 (1)
137 (1)
18 (1)
18 (1)
157 (1)
139 (1)
124 (1)
113 (2)
142 (1)
154 (3)
12 (3)
141 (1)
16 (1)
117 (3)
family (subject) ref
-
1(1)13
-
-
-
-
1(1) 13
1(2)11,18
1 (2) 11,18
1(2)11,18
*23
-
-
1 (1)10
-
-
-
-
-
1(4)11,18
-
-
**10
-
1 (1)10
-
rs112081600
None
None
None
None
None
None
rs755885744
rs200970763
rs202103485
rs201226914
None
None
rs587776990
rs767365106
rs200929552
rs201442593
None
None
None
None
None
rs587776989
rs556794769
rs587776991
None
c.1013C>A 8
c.1792G>A 14
c.1792G>C 14 (1)
c.1813A>G 14
(2)
c.1815G>A 14
c.2005G>T 16
c.2042T>C 16
c.2152G>A 16
(3)
c.2344G>A 18 (4)
c.2423G>A 18
(4)
c.2815C>A* 21 (5)
c.4069A>G 29
c.4071C>G 29
c.4073G>C 29
c.4556A>C 34 (6)
c.5728G>A 40
(6)
c.5773C>T 40 (7)
c.5981C>T 42
c.6007G>A 42 (8)
c.6008C>A 42
c.6016G>A 42
c.6019A>C 42
c.6058G>A** 42
c.6329G>A 44
Hmz
c.6380C>T 44
c.6451T>C 44
- 0.001
- B T PM
p.Ser338Tyr
p.Val598Met
p.Val598Leu
p.Met605Val
p.Met605Ile
p.Asp669Tyr
0.52 1PM
+/- 0.998 0.1 0.998 Y
+/- Pr T DC
+/- 0.993 +/- Pr
+ 0.952
+/- Pr
0.32 0.997 PP T DC
0.05 0.993 US
T DC
0.08 0.983 PP
p.Phe681Ser 0
+ 0.956 0.05 1 PP
+/- Pr D DC
+ 0. 973 0 1 Y + Pr D DC
-- 0.001 0.69 1 PM
- B T PM
+/- 0.921 0.21 1 Y - Pr T DC
+/- 0.968
+/- Pr T DC
p. Gly718Ser
p.Gly782Ser
p.Arg808Gln
0.004
0.41
0.41
+ 0.638
+/- Po
- 0.999 +/- Pr
+/- 0.985
+ Pr
- 0.998 + Pr
- 0.998
0.1 0.999 Y
T DC
0.05 0.996 US D DC
0 1 PP
D DC
0 0.995 PP D DC
0 1 Y
p.Leu939Met 0.11
p. Ile1357Val 0
p.Ile1357Met 0
p.Arg1358Pro 0
p.Gln1519Pro
p.Glu1910Lys
p.Arg1925Trp
p.Ser1994Phe
p.Ala2003Thr
p.Ala2003Asp
p.Val2006Ile
p.Met2007Leu
p.Ala2020Thr
p.Arg2110Gln
p.Thr2127Met
p.Cys2151Arg
0.038
0.19
0.054
0
0
0
0
0
0
0.0026
0.0037
0
-- 0.827 +/- Po
-- 0.001
0.31 0,76 US T DC
0.86 1 PM
++ Pr D DC
-BT PM
- 0.332 0.04 1 PM -BD PM
+ 0.024 0.01 1 PP
+ B D DC
+ 0.124 0.64 1 US +/- BT DC
+ 0.305 0.03 1 PP
+/- B D DC
+/- 0.005 +/- B
+ 0.068
+ B
+ 0.579 + Po
+ 0.649
+/- Po
0.26 0.994 US T DC
0 1 PP
D DC
0 1 Y D DC
0.24 1 nd
T DC
+ 0.998
+ Pr D DC
0.02 1 Y
+ 0.997 0 1 PP
+ Pr D DC
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haematologica | 2019; 104(8)
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