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Table 3 HGMD reported mutations in TTN gene associated with LGMD disorders

From: Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

Gene Name

DNA

Variation

Protein

Variation

Mutation type

Reported phenotype

TTN

c.187G > A

p.A63T

Missense

Muscular dystrophy, limb-girdle

TTN

c.3100G > A

p.V1034 M

Missense

Muscular dystrophy

TTN

c.7961G > A

p.R2654K

Missense

Muscular dystrophy

TTN

c.22771A > T

p.K7591*

Nonsense

Muscular dystrophy

TTN

c.28730C > T

p.P9577L

Missense

Muscular dystrophy

TTN

c.46363C > T

p.R15455*

Nonsense

Muscle weakness

TTN

c.49243G > A

p.A16415T

Missense

Muscular dystrophy

TTN

c.63658G > A

p.A21220T

Missense

Muscle weakness

TTN

c.76850G > A

p.R25617Q

Missense

Muscle weakness

TTN

c.78320C > T

p.P26107L

Missense

Muscle weakness

TTN

c.87483G > C

p.W29161C

Missense

Muscle weakness

TTN

c.97332C > A

p.Y32444*

Nonsense

Muscular dystrophy

TTN

c.98456C > G

p.S32819*

Nonsense

Muscle weakness

TTN

c.99274C > T

p.Q33092*

Nonsense

Muscular dystrophy

TTN

c.100133A > C

p.H33378P

Missense

Tibial muscular dystrophy

TTN

c.100136 T > A

p.I33379N

Missense

Tibial muscular dystrophy

TTN

c.100163 T > C

p.L33388P

Missense

Tibial muscular dystrophy

TTN

c.100186C > T

p.Q33396*

Nonsense

Tibial muscular dystrophy

TTN

c.57871 + 2 T > G

Splice site

Muscular dystrophy

TTN

c.99673 + 1G > C

Splice site

Muscle weakness

TTN

c.6379_6380delTA

p.(Tyr2127Leufs*8)

Deletion

Muscular dystrophy

TTN

c.43733-4_43740del12

Deletion

Muscular dystrophy

TTN

c.59385delT

p.(Lys19796Argfs*24)

Deletion

Tibial muscular dystrophy

TTN

c.90401delC

p.(Pro30134Leufs*15)

Deletion

Tibial muscular dystrophy

TTN

c.93409delT

p.(Ser31137Leufs*4)

Deletion

Muscular dystrophy, limb girdle 2 J

TTN

c.98807G > A

p.Arg32936His

Missense

Muscular dystrophy, limb-girdle

TTN

c.99943delT

p.(Ser33315Glnfs*10)

Deletion

Tibial muscular dystrophy

TTN

c.100185delA

p.(Lys33395Asnfs*9)

Deletion

Tibial muscular dystrophy

TTN

c.32190dupT

Duplication

Muscular dystrophy, limb girdle 2 J

TTN

c.92854_92857dupACTG

Duplication

Tibial muscular dystrophy

TTN

c.100076_100086delins11

Indels

Tibial muscular dystrophy

TTN

c.1662 + 15_3101–3

Gross deletion

Muscular dystrophy

TTN

ex. 34–41

Gross deletion

Muscle weakness