Table 1. TTN variants identified in 14 patients with distal myopathy and Serbian ancestry.
| Patient no. | Chr. 2 position | Ref | Alt | Mutation type | Mutation effect | HGVSc ENST00000589042.1 | HGVSp ENSP00000467141.1 | TTN exon | Titin part |
|---|---|---|---|---|---|---|---|---|---|
| 01 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 397 981 | TC | T | Deletion | Frameshift | c.103360delG | p.(Glu34454AsnfsTer3) | 358 (Mex1) | M-line | |
| 02 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line | |
| 03 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 585 284 | C | T | Point | Stop gain | c.23205G>A | p.(Trp7735Ter) | 80 | I-band | |
| 04 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 407 388 | C | T | Point | Splice donor | c.97192+1G>A | intron 348 | A-band | ||
| 05 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line | |
| 06 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 395 791 | G | C | Point | Stop gain | c.105551C>G | p.(Ser35184Ter) | 358 (Mex1) | M-line | |
| 07 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 466 466 | G | A | Point | Stop gain | c.55351C>T | p.(Arg18451Ter) | 286 | A-band | |
| 08 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 397 981 | TC | T | Deletion | Frameshift | c.103360delG | p.(Glu34454AsnfsTer3) | 358 (Mex1) | M-line | |
| 09 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 397 232 | C | CA | Insertion | Frameshift | c.104109dup | p.(Glu34704Ter) | 358 (Mex1) | M-line | |
| 10 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 454 639 | T | C | Point | Missense | c.61813A>G | p.(Ile20605Val) | 304 | A-band | |
| 11 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 443 738 | AC | A | Deletion | Frameshift | c.68018delG | p.(Gly22673ValfsTer9) | 320 | A-band | |
| 12 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 435 390 | G | A | Point | Stop gain | c.75469C>T | p.(Arg25157Ter) | 326 | A-band | |
| 13 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line | |
| 14 | 179 392 218 | G | A | Point | Stop gain | c.107635C>T | p.(Gln35879Ter) | 362 (Mex5) | M-line |
| 179 397 981 | TC | T | Deletion | Frameshift | c.103360delG | p.(Glu34454AsnfsTer3) | 358 (Mex1) | M-line |
Abbreviations: Alt, alteration; chr, chromosome; HGVS, human genome association variation; HGVSc, the HGVS coding sequence name; HGVSp, the HGVS protein sequence name; ref, reference.