Table 4 DCM patients with both predicted deleterious TTN missense variant and TTN truncation (TTNtv).

From: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Gene

Deleterious TTN missense variants

Other known P/LP TTNtv

Nucleotide Change

AA Change

Nucleotide Change

AA Change

TTN

c.44270 T > A

p.Leu14757His

c.45322 C > T

p.Arg15108*

TTN

c.91721 A > T

p.Glu30574Val

c.76373delC

p.Pro25458Glnfs*9

TTN

c.98713 G > A

p.Glu32905Lys

c.8426dup

p.Asn2809Lysfs*7

TTN

c.69668 G > C

p.Gly23223Ala

c.69671delC

p.Pro23224HisfsTer10

TTN

c.49814 T > G

p.Val16605Gly

c.75391delG

p.V25131Lfs*16

  1. Variant positions were reported for the RefSeq transcript NM_001267550.
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