PMID: 25979592

Waldmuller S, Schroeder C, Sturm M, Scheffold T, Imbrich K, Junker S, Frische C, Hofbeck M, Bauer P, Bonin M, Gawaz M, Gramlich M
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
Mol Cell Probes. 2015 Oct;29(5):308-14. doi: 10.1016/j.mcp.2015.05.004. Epub 2015 May 12., [PubMed]
Sentences
No. Mutations Sentence Comment
176 ABCC9 p.Met1198Ile
X
ABCC9 p.Met1198Ile 25979592:176:332
status: NEW
view ABCC9 p.Met1198Ile details
 Patient ID Condition Gene Sequence variationa Consequenceb Population frequency [%]c Reference CM001 HCM LAMA4 c.5249C > T p.Pro1750Leu 0.1 rs200177134 PKP2 c.1759G > A p.Val587Ile 0.5 CM068257 TTN c.32563_32564 p.Glu10855_ n.a. this work insAGA Tyr10856insLys TTN c.62224G > A p.Gly20742Arg 0.01 ESP CM002 LVNC ABCC9 c.3594G > A p.Met1198Ile n.a. rs199900459 TTN c.9359G > A p.Arg3120Gln 0.4 ESP TTN c.93319C > T p.Arg31107Cys 0.4 ESP CM003 DCM TTN c.77887G > C p.Gly25963Arg n.a. this work CM004 DCM TTN c.45226G > A p.Glu15076Lys n.a. this work CM005 HCM DSP c.1941A > C p.Gln647His n.a. this work TTN c.28269C > G p.Asn9423Lys n.a. this work CM006 HCM MYH7 c.4343A > T p.Asn1448Ile n.a. this work NEXN c.620A > G p.Asp207Gly/&#fe;SD n.a. this work CM007 DCM MYH7 c.2645A > G p.Gln882Arg n.a. this work RBM20 c.2062C > T p.Arg688* n.a. this work CM008 DCM TTN c.3083G > T p.Cys1028Phe n.a. this work CM009 LVNC e e e e e CM010 DCM DSP c.740C > T p.Ala247Val n.a. this work TTN c.G9359A p.Arg3120Gln 0.4 ESP TTN c.93319C > T p.Arg31107Cys/&#fe;SD 0.4 ESP CM011 DCM e e e e e CM012 DCM e e e e e CM013 HCM NEXN c.995A > C p.Glu332Ala 0.2 ESP TTN c.6910G > A p.Val2304Met n.a. ESP TTN c.40485G > T p.Lys13495Asn 0.9 ESP a Reference sequences: see section 2.7. b Predicted consequences: &#fe;SD, gain in splice donor site; the asterisk marks a nonsense variant. Login to comment