Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19263 | 58012;58013;58014 | chr2:178595567;178595566;178595565 | chr2:179460294;179460293;179460292 |
| N2AB | 17622 | 53089;53090;53091 | chr2:178595567;178595566;178595565 | chr2:179460294;179460293;179460292 |
| N2A | 16695 | 50308;50309;50310 | chr2:178595567;178595566;178595565 | chr2:179460294;179460293;179460292 |
| N2B | 10198 | 30817;30818;30819 | chr2:178595567;178595566;178595565 | chr2:179460294;179460293;179460292 |
| Novex-1 | 10323 | 31192;31193;31194 | chr2:178595567;178595566;178595565 | chr2:179460294;179460293;179460292 |
| Novex-2 | 10390 | 31393;31394;31395 | chr2:178595567;178595566;178595565 | chr2:179460294;179460293;179460292 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 0.001 | N | 0.157 | 0.162 | 0.362758974969 | gnomAD-4.0.0 | 6.323E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.25034E-06 | 0 | 0 |
| S/N | rs772342556  |
0.054 | 0.883 | N | 0.262 | 0.106 | 0.185906805712 | gnomAD-2.1.1 | 3.1E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 2.40096E-04 | None | 0 | 0 | 0 |
| S/N | rs772342556 |
0.054 | 0.883 | N | 0.262 | 0.106 | 0.185906805712 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| S/N | rs772342556 |
0.054 | 0.883 | N | 0.262 | 0.106 | 0.185906805712 | gnomAD-4.0.0 | 8.88764E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65782E-04 | 0 | 1.27871E-04 | 3.27354E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0663 | likely_benign | 0.0722 | benign | -0.449 | Destabilizing | 0.4 | N | 0.215 | neutral | None | None | None | None | I |
| S/C | 0.1173 | likely_benign | 0.135 | benign | -0.324 | Destabilizing | 0.99 | D | 0.336 | neutral | N | 0.474357752 | None | None | I |
| S/D | 0.5084 | ambiguous | 0.5574 | ambiguous | -0.001 | Destabilizing | 0.909 | D | 0.234 | neutral | None | None | None | None | I |
| S/E | 0.5332 | ambiguous | 0.5793 | pathogenic | -0.106 | Destabilizing | 0.766 | D | 0.237 | neutral | None | None | None | None | I |
| S/F | 0.2774 | likely_benign | 0.356 | ambiguous | -1.087 | Destabilizing | 0.739 | D | 0.439 | neutral | None | None | None | None | I |
| S/G | 0.1014 | likely_benign | 0.1114 | benign | -0.535 | Destabilizing | 0.712 | D | 0.186 | neutral | N | 0.476050602 | None | None | I |
| S/H | 0.3456 | ambiguous | 0.4012 | ambiguous | -1.041 | Destabilizing | 0.992 | D | 0.333 | neutral | None | None | None | None | I |
| S/I | 0.101 | likely_benign | 0.1491 | benign | -0.351 | Destabilizing | 0.001 | N | 0.157 | neutral | N | 0.401771848 | None | None | I |
| S/K | 0.6463 | likely_pathogenic | 0.7131 | pathogenic | -0.475 | Destabilizing | 0.766 | D | 0.238 | neutral | None | None | None | None | I |
| S/L | 0.0999 | likely_benign | 0.1253 | benign | -0.351 | Destabilizing | 0.002 | N | 0.16 | neutral | None | None | None | None | I |
| S/M | 0.1484 | likely_benign | 0.1854 | benign | -0.001 | Destabilizing | 0.85 | D | 0.356 | neutral | None | None | None | None | I |
| S/N | 0.128 | likely_benign | 0.143 | benign | -0.222 | Destabilizing | 0.883 | D | 0.262 | neutral | N | 0.465473823 | None | None | I |
| S/P | 0.2652 | likely_benign | 0.2912 | benign | -0.357 | Destabilizing | 0.972 | D | 0.371 | neutral | None | None | None | None | I |
| S/Q | 0.4328 | ambiguous | 0.4712 | ambiguous | -0.535 | Destabilizing | 0.972 | D | 0.237 | neutral | None | None | None | None | I |
| S/R | 0.5629 | ambiguous | 0.6399 | pathogenic | -0.219 | Destabilizing | 0.896 | D | 0.373 | neutral | N | 0.443290397 | None | None | I |
| S/T | 0.0782 | likely_benign | 0.0866 | benign | -0.35 | Destabilizing | 0.334 | N | 0.219 | neutral | N | 0.471418361 | None | None | I |
| S/V | 0.1216 | likely_benign | 0.1544 | benign | -0.357 | Destabilizing | 0.048 | N | 0.432 | neutral | None | None | None | None | I |
| S/W | 0.5148 | ambiguous | 0.5994 | pathogenic | -1.061 | Destabilizing | 0.992 | D | 0.506 | neutral | None | None | None | None | I |
| S/Y | 0.2685 | likely_benign | 0.3225 | benign | -0.795 | Destabilizing | 0.92 | D | 0.475 | neutral | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.