1 / 1

c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G

HMBS Gene. c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G. c.34-21A>G p.Glu12X c.81delG,80-82insTC p.Gln29X c.87+5G>A. p.Leu276Arg p.Gly280Glu c.842_844delGAG c.891_892insT. p.Gly179X c.535delG p.Arg195His. p.Glu117X c.397delA.

erling
Télécharger la présentation

c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. HMBS Gene c.652-(1_2)delAG c.657_663delCTTGGGC p.Asp230Tyr p.Leu234Pro p.Leu244Arg p.Cys247X c.771+3A>G c.34-21A>G p.Glu12X c.81delG,80-82insTC p.Gln29X c.87+5G>A p.Leu276Arg p.Gly280Glu c.842_844delGAG c.891_892insT p.Gly179X c.535delG p.Arg195His p.Glu117X c.397delA p.Ala11Ala 4 1 1 3 3 4 5 5 6 6 7 7 8 8 9 9 10 11 11 12 13 14 15 15 14 10 p.Leu30Ile c.88-(6-16)del11bp c.88-20A>C p.Ser147Pro c.476delC c.772-3C>G c.892_893delCA p.Glu310X c.963_964insT c.613-3C>A p.Glu209Asp,p.Gly216Ala,p.Gln217Lys PPOX Gene p.Leu178Arg c.599-600insG c.616+5G>T c.813-814insATCT c.868+3A>C c.996-997insA p.Gly10X p.Cys26X c.1009-1023del15ins9 c.1093delG,c.1092-1093insCACTC 11 10 12 2 3 4 5 6 7 8 9 1 13 p.Arg47X c.339-1G>A c.461-471,c.471+12del23bp c.472-(24-16)delCTTAGTCCT c.617-3C>A c.996-997insA Gln428X CPOX Gene c.119delA p.Leu88Gln p.Trp181Leu c.1173-14T>G p.Tyr392Cys p.Leu421X,c.1266delT c.1053-1054insT p.Pro367Ala p.Thr286Lys p.Leu311Pro 1 2 3 4 5 6 7 c.1284delG Supplemental Figure 1: Previously unreported mutations in the HMBS, CPOX and PPOX genes

More Related