Albertine Donker

IRIDA: a Heterogeneous Disease 183 4 Supplemental Table 6. Continued Table 6 B. Genetics and ethnicity in 7 heterozygous patients ID Sex Origin TMPRSS6 defect p.Ala 736Val a allele 1; allele 2 15 F NL c.del promotor, exon 1-3; Wt p.nonsense; Wt 0 16 F NL c.497delT; Wt p.Leu166Argfs*37; Wt np 17 F NL c.497delT; Wt p.Leu166Argfs*37; Wt 1 f 18 F NL c.230-6G>A g ; Wt splicing; Wt 1 c 19 F NL c.863+1G>T h ; Wt splicing; Wt 1 f 20 F TR c.1654G>A; Wt p.Asp552Asn; Wt 0 21 F NL c.2105G>T; Wt p.Cys702Phe; Wt 2 a 0 : p.Ala736 on both alleles, 1: p.Val736Ala on 1 allele, 2: p.Val36Ala on both alleles b Deletion 118 kb in intron 2, knocking out exon 3-18 of TMPRSS6 gene. Also other genes were deleted; RefSeq genes TEX33, MPST, TST and KCTD17 c No family studies available; so whether p.Ala736Val was located on Wt allele or mutated allele was unclear d Family studies showed that p.Ala736Val was located on allele c.2383G>A, p.Val795Ile; e Family studies showed that p.Val736Ala was located on allele c.2105G>T, p.Cys702Phe; f Family studies showed that p.Ala736Val was located on the Wt allele g This substitution is predicted to introduce a new and more efficient acceptor splice site 4 bases downstream from the original acceptor splice site in intron 2 leading to a frameshift in the open reading frame. Not proven on RNA or protein level. (http://www.interactive-biosoftware.com/doc/alamut- visual/2.7/splicing.html), accessed on July 14 2016. h This substitution is located in the donor splice site of intron 7. The consequence of this change is not predictable, but a skip of exon 7 is very likely resulting in the loss of a classical splice site. Not proven on mRNA or protein level (http://www.interactive-biosoftware.com/doc/alamut-visual/2.7/splicing.html) , accessed on July 14 2016 Abbreviations: F denotes female; M, male; MA, Morocco; NL, Netherlands; TR; Turkey; iv, intravenous; po, per os; im; intramuscular; Wt; Wildtype; np, not provided