1 / 1

c.1407+5G>A

c.1407+5G>A. A. gDNA. exon 13. cDNA. c.1899-4A>G. B. C. c.2101A>G. c.242A>G. c.2311_2312delCA. H. sapiens RQI D FVL M. musculus RQI D FVL X. laevis RRI D FIL D. rerio RRI D FVL D. melanogaster RKV D MVL A. gambiae RKI D MVL. E. D. c.2141C>G.

Download Presentation

c.1407+5G>A

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. c.1407+5G>A A gDNA exon 13 cDNA c.1899-4A>G B C c.2101A>G c.242A>G c.2311_2312delCA H. sapiens RQIDFVL M. musculus RQIDFVL X. laevis RRIDFIL D. rerio RRIDFVL D. melanogaster RKVDMVL A. gambiae RKIDMVL E D c.2141C>G H. sapiens ALINNIV M. musculus ALMNNIM X. laevis ALLNNIL D. rerio ALMNNIL D. melanogaster ALLNNVA A. gambiae ALLNNIA F G c.1627dupA c.1502delT H. sapiens KLTTQYR M. musculus KLTTQYR X. laevis KLTTQFK D. rerio KFTTQFR D. melanogaster KMVTQAR A. gambiae KMVTQSR H I J K Figure e-1. New recessive ANO5 mutations identified in this study. (A) Heterozygous mutation c.1407+5G>A. In cDNA sequence of the same patient heterozygous skipping of exon 14 is shown. (B) Heterozygous mutation c.242A>G. (C) Protein alignment of residue Asp81. (D) Heterozygous mutation c.2101A>G. (E) Protein alignment of residue Asn701. (F) Heterozygous mutation c.2141C>G. (G) Protein alignment of residue Thr714. (H) Heterozygous mutation c.1502delT. (I) Heterozygous mutation c.1627dupA. (J) Heterozygous mutation c.1899-4A>G. (K) Heterozygous mutation c.2311_2312delCA. The sequence is shown in reverse direction. Arrows indicate the sites of the mutations.

More Related