Download Table 2 : Mutations identified in FLNA gene

Exon
/Intron
Family History Patient
DNA change
Amino acid change Mutation Type Amino acid conservation Protein Domain X inactivation (%)
Paralog
Ortholog
2
F
15
c.356T>A
p.Ile119Asn
Missense
2/2
6/6
CH1 (ABD)
21/79
2
F
8
c.365T>G
p.Val122Gly
Missense
2/2
6/6
CH1 (ABD)
38/62
2
F
9
c.365T>G
p.Val122Gly
Missense
2/2
6/6
CH1 (ABD)
42/58
2
S
29
c.368C>A
p.Ser123Tyr
Missense
2/2
6/6
CH1 (ABD)
24/76
6
S
2
c.957C>A
p.Tyr319X
Nonsense
RD1
29/71
12
S
11
c.1790_1delTT
p.Phe597CysfsX22
Frameshift
RD4
42/58
Intron12
F
6
c.1828+2T>G
unknown
Splice
unknown
38/62
Intron12
F
32
c.1828+2T>G
unknown
Splice
unknown
65/35
15
S
25
c.2193C>G
p.Tyr731X
Nonsense
RD5
48/52
18
S
24
c.2587C>T
p.Arg863X
Nonsense
RD6
10/90
22
S
14
c.3767_8insC
p.Gly1257ArgfsX9
Frameshift
RD11
11/89
26
S
31
c.4419_28delGGACACAAGC p.Val1473ValfsX24
Frameshift
RD13
Homozygous
27
S
16
c.4573_4insA
p.Tyr1525X
Nonsense
RD13
42/58
44
F
21
c.7045C>T
p.Gln2349X
Nonsense
RD22
29/71
44
F
22
c.7045C>T
p.Gln2349X
Nonsense
RD22
Homozygous
DNA numbered from the A (+1) of the ATG initiation codon in the cDNA sequence (Genbank: NM_001456). Amino acid conservation was
studied using the protein sequences of 2 paralogs (FLNB and FLNC) and 6 orthologs (Mus Musculus, Rattus Norvegicus, Bos Taurus, Gallus
Gallus, Canis Familiaris, Xenopus Tropicalis,). All mutations were novel. CH: calponin homology domain, ABD: actin binding domain, RD124: repeated domains 1 to 24.
Table 2: FLNA gene mutations identified in 15 patients