Gene of the issue: RUNX1 mutations and inherited bleeding

Figures & data

Table I. RUNX1 variants reported to date in patients with an FPD/AML inherited bleeding disorder. Heterozygous RUNX1 nucleotide changes present in patients with inherited bleeding and their predicted effects on the resulting RNA or protein are also shown. Genomic variations are numbered according to positions in the NM_001001890 transcript for RUNX1. The references where they were initially reported is also indicated.

Genomic variation	Protein effect	Variation type	References
c.16 G>A	p.D6N	Missense	[9]
c.82dup888	p.A28GfsX83	Insertion	[11]
c.236 G>A	p.W79X	Nonsense	[1]
c.239 G>A	p.R80H	Missense	[8]
c.247 A>G	p.K83E	Missense	[12]
c.270+1G>T		Splicing	[1,9]
c.271-1G>T		Splicing	[3]
c.295 G>C	p.D99H	Missense	[11]
c.319 G>C	p.A107P	Missense	[2]
c.322 G>A	p.G108S	Missense	[9]
c.361_368delACCGCAGC	p.T121HfsX9	Deletion	[8,13]
c.386 C>A	p.A129E	Missense	[8,14]
c.415 C>T	p.R139X	Nonsense	[15]
c.416 G>A	p.R139Q	Missense	[3]
c.426delA	p.Ser145AfsX4	Deletion	[16]
c.427 G>A	p.G143R	Missense	[17]
c.427+1G>T		Splicing	[1]
c.428+3delA	p.R135fsX177	Splicing	[12]
c.505 A>G	p.T169A	Missense	[9]
c.506 C>G	p.T169R	Missense	[8]
c.511 G>T	p.D171Y	Missense	[17]
c.512 A>T	p.D171V	Missense	[9]
c.520 C>T	p.R174X	Nonsense	[3]
c.521 G>A	p.R174Q	Missense	[3,8]
c.529 C>T	p.R177X	Nonsense	[3]
c.530 G>A	p.R177Q	Missense	[8,9,14]
c.568 G>A	p.G190R	Missense	[18]
c.654delC	p.T219RfsX8	Deletion	[19]
c.703 C>T	p.Q235X	Nonsense	[17]
c.707delC	p.P236LfsX48	Deletion	[20]
c.780 C>A	p.Y260X	Nonsense	[12]
c.786delA	p.S263PfsX21	Deletion	[21]
c.877 C>T	p.R293X	Nonsense	[11]
c.906delG	p.F303SfsX264	Deletion	[22]
c.918_922dup	p.Q308RfsX261	Insertion	[8,14]
c.1007_1013delGCATCGG	p.G336AfsX229	Deletion	[11]
c.1011delC	p.I337MfsX230	Deletion	[8]
c.1082 C>A	p.S361X	Nonsense	[23]

Figure 1. Schematic showing the protein location of all previously published variants within RUNX1 which are implicated in FPD/AML. The Runt-homology DNA-binding domain spanning amino acids 49 to182 and the Activation domain spanning from amino acid 243 to 371 is also displayed. Alterations are numbered according to positions in the NM_001001890 transcript for RUNX1.

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