Albertine Donker

Chapter 4 180 Supplemental Table 5. Characteristics of TMPRSS6 variants Allele Frequency Functional test Reference In-silico analysis Deletion c.del of 118 kb in 22q12.3; p.nonsense new na na na c.del promotor, exon 1-3; p.nonsense new na na na Frameshift c.497delT; p.Leu166Argfs*37 0.00000826 a na Beutler et a l 6 na c.1904_1905dup; p.Lys636Alafs*17 na na Finberg et a l 7 na Nonsense c.1832G>A; p.Trp611X new na na na Missense c.521T>C; p.Leu174Pro new na na AlignGVGD b : C0 Polyphen c : 0.57 SIFT d : 0.04 c.1228T>C; p.Cys410Arg new na na Align GVGD b : C0 Polyphen c : 0.45 SIFT d : 0.00 c.1229G>C; p.Cys410Ser new na na Align GVGD b : C0 Polyphen c : 0.01 SIFT d : 0.00 c.1324G>A; p.Gly442Arg na na Finberg et al 7 Align GVGD b : C65 Polyphen c : 1.0 SIFT d : 0.00 c.1654G>A; p.Asp552Asn new na na Align GVGD b : CO Polyphen c : 1.0 SIFT d : 0.00 c.2105G>T; p.Cys702Phe 0.0008389 f na Cuijpers et al 8 Align GVGD b : CO Polyphen c : 1.0 SIFT d : 0.00 c.2383G>A; p.Val795Ile 0.008571 g Normal inhibition of HAMP1 expression 6 Beutler et al 6 Cuijpers et al 8 Align GVGD b : CO Polyphen c : 1.0 SIFT d : 0.00 Splicing c.230-6G>A; splicing new na na Alamut: splice site h c.863+1G>T; splicing new na na Skip of exon 7 i