Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies


Titin Variant Study - LMM 2014

DCM cohort mutation data from Partners Healthcare, titin sequenced in a minority of cases. (2014)

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH.
Genet Med 2014 Aug;16(8):601-8.

Patient cohorts analysed in this study

CohortDescriptionStatusSizeTTNtv %
ALL-CASESBroad referral population to Partners HealthCareDCM15614.7%

Truncating variants identified in this study

CohortPatient IDExonBandVariant (CDS)Variant (protein)Variant Type
ALL-CASES68 near Z-diskc.3034C>Tp.Arg1012Xnonsense
ALL-CASES155 I-bandc.11657delAp.Asp3886ValfsX22frameshift
ALL-CASES157 I-bandc.12587C>Ap.Ser4196Xnonsense
ALL-CASES156 I-bandc.15369_15371delGTTp.Leu5123delinframe indel
ALL-CASES110 I-bandc.41610delAp.Val13871SerfsX7frameshift
ALL-CASES113 I-bandc.44364delCp.Tyr14789ThrfsX15frameshift
ALL-CASES103 I-bandc.45307C>Tp.Arg15103Xnonsense
ALL-CASES109 I-bandc.46069_46070delATp.Met15357ValfsX4frameshift
ALL-CASES116 I-bandc.46773T>Ap.Tyr15591Xnonsense
ALL-CASES119 I-bandc.46782C>Ap.Tyr15594Xnonsense
ALL-CASES114 A-bandc.57215delGp.Gly19072GlufsX12frameshift
ALL-CASES107 A-bandc.57847+1G>Aessential splice site
ALL-CASES112 A-bandc.57995delAp.His19332ProfsX18frameshift
ALL-CASES106 A-bandc.57995delAp.His19332ProfsX18frameshift
ALL-CASES115 A-bandc.57995delAp.His19332ProfsX18frameshift
ALL-CASES104 A-bandc.69458_69461dupAGAAp.Asn23154LysfsX14frameshift
ALL-CASES117 A-bandc.73845delAp.Glu24615AspfsX9frameshift
ALL-CASES111 A-bandc.77421_77422insCp.Ser25808GlnfsX19frameshift
ALL-CASES108 A-bandc.86821+2T>Aessential splice site
ALL-CASES105 A-bandc.89197_89197+2delGGTessential splice site
ALL-CASES102 A-bandc.90587delAp.Lys30196ArgfsX94frameshift
ALL-CASES120 A-bandc.93897delTp.Phe31299LeufsX14frameshift
ALL-CASES118 M-bandc.102949C>Tp.Gln34317Xnonsense