Table 2.
Details of the TTN variants identified in our cohort
| Patient | TTN Mutation 1 | TTN Mutation 2 | Cardio-myopathy | Other TTN | Other variants | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino acid | Description | Region | Domain | Expressed in transcript? | Nucleotide | Amino acid | Description | Region | Domain | Expressed in transcript? | ||||||||
| N2AB | N2A | N2B | N2AB | N2A | N2B | ||||||||||||||
| 1 | c.470C > A | p.Ala82Asp | Missense | Z-disk | Ig1 | Y | Y | Y | c.104646_104650del | p.Arg34807Serfs*7 | Frameshift | M-band | Between Ig-162 & Ig-163 | Y | Y | Y | N | No | RYR |
| 2 | c.2140C > T | p.Gln639* | Nonsense | Z-disk | Between Ig-2 and Ig-3 | Y | Y | Y | c.83394_83395delGG | p.Glu27723Aspfs*10 | Frameshift | A-band | Ig-141 | Y | Y | Y | Y | No | |
| 3 | c.4949_4953delTGAAA | p.Met1575Serfs*6 | Frameshift | Z-disk | Ig-7 | Y | Y | Y | c.22186G > A | p.Glu7321Lys* | Splicesite | I-band | Between Ig-57 and Ig-58 | Y | Y | N | N | No | PLEC |
| 4 | c.4949_4953delTGAAA | p.Met1575Serfs*6 | Frameshift | Z-disk | Ig-7 | Y | Y | Y | c.22186G > A | p.Glu7321Lys* | Splicesite | I-band | Between Ig-57 and Ig-58 | Y | Y | N | N | No | PLEC |
| 5 | c.6206C > A | p.Ser1994* | Nonsense | Z/I Junction | Between Ig-9 and Ig-10 | Y | Y | Y | c.105751C > T | p.Gln35176* | Nonsense | M-band | Ig164 | Y | Y | Y | Y | No | |
| 6 | c.14596 + 1_14597dup | p.? | Duplication | I-band | Ig-31 | Y | Y | N | c.16021C > T | p.Arg5266* | Nonsense | I-band | Ig-36 | Y | Y | N | N | Yes | |
| 7 | c.14596 + 1_14597dup | p.? | Duplication | I-band | Ig-31 | Y | Y | N | c.16021C > T | p.Arg5266* | Nonsense | I-band | Ig-36 | Y | Y | N | N | Yes | |
| 8 | c.15385T > C | p.Cys5054Arg | Missense | I-band | Ig-33 | Y | Y | N | c.74020delT | p.Tyr24599Metfs*12 | Frameshift | A-band | Fn3-66 | Y | Y | Y | N | No | |
| 9 | c.19651 + 2 T > A | N/A | Splicesite | I-band | Between Ig-48 & Ig-49 | Y | Y | N | c.60352G > T | p.Gly20043* | Nonsense | A-band | Fn3-33 | Y | Y | Y | N | Yes | |
| 10 | c.19651 + 2 T > A | N/A | Splicesite | I-band | Between Ig-48 & Ig-49 | Y | Y | N | c.60352G > T | p.Gly20043* | Nonsense | A-band | Fn3-33 | Y | Y | Y | N | Yes | |
| 11 | c.24976C > T | p.Gln8251* | Nonsense | I-band | Ig-67 | Y | Y | N | c.106756 + 5G > A | N/A | Splicesite | M-band | Between Ig-166 & Ig-167 | Y | Y | Y | N | Yes | NEB |
| 12 | c.25229C > A | p.Ser8335* | Nonsense | I-band | Ig-68 | Y | Y | N | c.32920A > T | p.Lys10899* | Nonsense | I-band | PEVK | Y | Y | N | N | No | |
| 13 | c.37309delG | p.Ala12362Leufs*584 | Frameshift | I-band | Between Ig-86 and Ig-87 | N | N | N | c.44506 + 1G > A | N/A | Splicesite | I-band | Between Ig-98 & Ig-99 | Y | Y | Y | N | No | |
| 14 | c.40783G > C | p.Val13520Leu | Splicesite | I-band | PEVK | Y | Y | Y | c.69646_69647insAAAAG; | p.Gly23141Glufs*37 | Frameshift | A-band | Fn3-56 | Y | Y | Y | Y | No | |
| 15 | c.41369C > A | p.Ala13715Glu | Missense | I-band | Ig-87 | Y | Y | Y | c.33289C > T | p.Arg11022* | Nonsense | I-band | PEVK | Y | Y | N | Y | No | |
| 16 | c.41369C > A | p.Ala13715Glu | Missense | I-band | Ig-87 | Y | Y | Y | c.33289C > T | p.Arg11022* | Nonsense | I-band | PEVK | Y | Y | N | Y | No | |
| 17 | c.48624C > A | p.Asn16133Lys | Missense | A-band | Fn3-4 | Y | Y | Y | c.16147C > T | p.Arg5308* | Nonsense | I-band | Ig-36 | Y | Y | N | N | No | |
| 18 | c.49638G > C | p.Trp16471Cys | Missense | A-band | Fn3-7 | Y | Y | Y | c.52234C > T | p.Arg17337* | Nonsense | A-band | Ig-112 | Y | Y | Y | Y | No | |
| 19 | c.49638G > C | p.Trp16471Cys | Missense | A-band | Fn3-7 | Y | Y | Y | c.52234C > T | p.Arg17337* | Nonsense | A-band | Ig-112 | Y | Y | Y | Y | No | |
| 20 | c.51376T > C | p.Cys17051Arg | Missense | A-band | Fn3-12 | Y | Y | Y | c.98352_98362delATACCAAGAAG | p.Gln32711Leufs*22 | Frameshift | A-band | Ig155 | Y | Y | Y | Y | No | |
| 21 | c.51376T > C | p.Cys17051Arg | Missense | A-band | Fn3-12 | Y | Y | Y | c.98352_98362delATACCAAGAAG | p.Gln32711Leufs*22 | Frameshift | A-band | Ig155 | Y | Y | Y | Y | No | |
| 22 | c.66920T > A | p.Val22232Glu | Missense | A-band | Fn3-49 | Y | Y | Y | c.102058delA | p.Asn34020Thrfs*9 | Frameshift | A/M Junction | Kinase | Y | Y | Y | Y | No | |
| 23 | c.76664G > C | p.Arg25480Pro | Missense | A-band | Fn3-73 | Y | Y | Y | c.44260C > T | p.Arg14679* | Nonsense | I-band | Ig-98 | Y | Y | Y | ND | No | |
| 24 | c.83771G > T | p.Gly27849Val | Missense | A-band | Fn3-90 | Y | Y | Y | c.63826C > T | p.Arg21201* | Nonsense | A-band | Ig-123 | Y | Y | Y | Y | Yes | |
| 25 | c.95420C > T | p.Pro31732Leu | Missense | A-band | Fn3-119 | Y | Y | Y | c.95420C > T | p.Pro31732Leu | Missense | A-band | Fn3-119 | Y | Y | Y | N | No | |
| 26 | c.95420C > T | p.Pro31732Leu | Missense | A-band | Fn3-119 | Y | Y | Y | c.95420C > T | p.Pro31732Leu | Missense | A-band | Fn3-119 | Y | Y | Y | N | No | |
| 27 | c.95765G > C | p.Arg31847Pro | Missense | A-band | Fn3-120 | Y | Y | Y | c.16513C > T | p.Arg5430* | Nonsense | I-band | Ig37 | Y | Y | N | Y | Yes | |
| 28 | c.97013_97014delCT | p.Thr32263Serfs*5 | Frameshift | A-band | Fn3-123 | Y | Y | Y | c.106756 + 1G > A | N/A | Splicesite | M-band | Between Ig-166 & Ig-167 | Y | Y | Y | Y | No | |
| 29 | c.97546_97574del | p.Asp32441Phefs*1 | Frameshift | A-band | Fn3-123 | Y | Y | Y | c.106584G > A | p.Trp35453* | Nonsense | M-band | Ig-166 | Y | Y | Y | Y | Yes | MYBPC-3 |
| 30 | c.102439T > C | p.Trp34072Arg | Missense | A/M Junction | Kinase | Y | Y | Y | c.23611C > T | p.Arg7796* | Nonsense | I-band | Ig-63 | Y | Y | N | N | No | |