Table 3 Rare TTN missense variant classified as deleterious by in-silico prediction.

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

SYMBOL

Position

Nucleotide Change

AA Change

EXON

DCM (n)

ExAC (n)

gnomAD (n)

Z-disk

   TTN

179664242

c.886 G > A

Val296Met

6

1

0

0

I-band

   TTN

179640476

c.6115 C > T

Leu2039Phe

28

1

0

0

   TTN

179634837

c.8591 A > G

Tyr2864Cys

36

1

0

0

   TTN

179634555

c.8753 G > C

Gly2918Ala

37

1

1

2

   TTN

179632835

c.9211 G > C

Glu3071Gln

39

1

2

4

   TTN

179588312

c.21515 G > T

Arg7172Ile

74

3

0

0

   TTN

179576946

c.27611 C > T

Pro9204Leu

96

1

1

2

   TTN

179574299

c.28747 A > T

Ile9583Phe

99

1

0

0

   TTN

179494979

c.44270 T > A

Leu14757His

239

2

0

0

A-band

   TTN

179477634

c.49814 T > G

Val16605Gly

265

6

0

0

   TTN

179476201

c.50755 G > T

Val16919Phe

269

1

0

0

   TTN

179472191

c.53224 T > A

Tyr17742Asn

277

1

0

0

   TTN

179452778

c.63356 G > A

Cys21119Tyr

305

1

1

1

   TTN

179441303

c.69668 G > C

Gly23223Ala

325

1

0

0

   TTN

179425479

c.85380 A > G

Ile28460Met

326

1

1

3

   TTN

179429090

c.81769 C > A

Pro27257Thr

326

0

0

0

   TTN

179432751

c.78108 G > C

Leu26036Phe

326

1

0

1

   TTN

179435376

c.75483 G > C

Lys25161Asn

326

1

0

1

   TTN

179436260

c.74599 A > G

Thr24867Ala

326

1

0

0

   TTN

179439256

c.71603 G > A

Arg23868Gln

326

1

1

2

   TTN

179439440

c.71419 T > C

Tyr23807His

326

1

0

0

   TTN

179419452

c.88622 T > C

Ile29541Thr

332

1

1

4

   TTN

179416971

c.90656 T > A

Val30219Asp

335

1

0

0

   TTN

179417593

c.90034 G > A

Glu30012Lys

335

1

0

0

   TTN

179418010

c.89617 T > C

Trp29873Arg

335

1

0

0

   TTN

179414844

c.91721 A > T

Glu30574Val

337

2

0

1

   TTN

179414390

c.92059 G > A

Gly30687Ser

338

1

2

4

   TTN

179411891

c.94361 T > C

Leu31454Pro

340

1

0

0

   TTN

179403949

c.98713 G > A

Glu32905Lys

353

1

1

3

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