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