Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24934 | 75025;75026;75027 | chr2:178571332;178571331;178571330 | chr2:179436059;179436058;179436057 |
| N2AB | 23293 | 70102;70103;70104 | chr2:178571332;178571331;178571330 | chr2:179436059;179436058;179436057 |
| N2A | 22366 | 67321;67322;67323 | chr2:178571332;178571331;178571330 | chr2:179436059;179436058;179436057 |
| N2B | 15869 | 47830;47831;47832 | chr2:178571332;178571331;178571330 | chr2:179436059;179436058;179436057 |
| Novex-1 | 15994 | 48205;48206;48207 | chr2:178571332;178571331;178571330 | chr2:179436059;179436058;179436057 |
| Novex-2 | 16061 | 48406;48407;48408 | chr2:178571332;178571331;178571330 | chr2:179436059;179436058;179436057 |
| 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/G | rs1231946544  |
-0.479 | 0.174 | N | 0.359 | 0.153 | 0.137902524267 | gnomAD-4.0.0 | 2.05299E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7992E-06 | 0 | 1.65717E-05 |
| S/N | rs1450413002 |
None | None | N | 0.083 | 0.059 | 0.0551355673512 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1450413002 |
None | None | N | 0.083 | 0.059 | 0.0551355673512 | gnomAD-4.0.0 | 2.56329E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39412E-06 | 1.34012E-05 | 0 |
| S/R | rs1345094321 |
-0.087 | 0.782 | N | 0.394 | 0.16 | 0.163833314356 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/R | rs1345094321 |
-0.087 | 0.782 | N | 0.394 | 0.16 | 0.163833314356 | gnomAD-4.0.0 | 1.5919E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
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 | 0.116 | likely_benign | 0.112 | benign | -0.381 | Destabilizing | 0.358 | N | 0.395 | neutral | None | None | None | None | I |
| S/C | 0.0952 | likely_benign | 0.0972 | benign | -0.281 | Destabilizing | 0.988 | D | 0.447 | neutral | N | 0.477797111 | None | None | I |
| S/D | 0.3277 | likely_benign | 0.3522 | ambiguous | 0.105 | Stabilizing | 0.404 | N | 0.325 | neutral | None | None | None | None | I |
| S/E | 0.56 | ambiguous | 0.5777 | pathogenic | 0.004 | Stabilizing | 0.575 | D | 0.327 | neutral | None | None | None | None | I |
| S/F | 0.217 | likely_benign | 0.2067 | benign | -1.02 | Destabilizing | 0.967 | D | 0.555 | neutral | None | None | None | None | I |
| S/G | 0.1096 | likely_benign | 0.1157 | benign | -0.476 | Destabilizing | 0.174 | N | 0.359 | neutral | N | 0.519497522 | None | None | I |
| S/H | 0.2552 | likely_benign | 0.2753 | benign | -1.015 | Destabilizing | 0.826 | D | 0.423 | neutral | None | None | None | None | I |
| S/I | 0.1391 | likely_benign | 0.1442 | benign | -0.264 | Destabilizing | 0.879 | D | 0.573 | neutral | N | 0.503162633 | None | None | I |
| S/K | 0.6876 | likely_pathogenic | 0.7079 | pathogenic | -0.483 | Destabilizing | 0.404 | N | 0.328 | neutral | None | None | None | None | I |
| S/L | 0.1128 | likely_benign | 0.1097 | benign | -0.264 | Destabilizing | 0.575 | D | 0.513 | neutral | None | None | None | None | I |
| S/M | 0.1704 | likely_benign | 0.1728 | benign | 0.01 | Stabilizing | 0.991 | D | 0.41 | neutral | None | None | None | None | I |
| S/N | 0.0814 | likely_benign | 0.0895 | benign | -0.2 | Destabilizing | None | N | 0.083 | neutral | N | 0.413676779 | None | None | I |
| S/P | 0.7769 | likely_pathogenic | 0.7676 | pathogenic | -0.275 | Destabilizing | 0.906 | D | 0.419 | neutral | None | None | None | None | I |
| S/Q | 0.4742 | ambiguous | 0.4998 | ambiguous | -0.462 | Destabilizing | 0.826 | D | 0.355 | neutral | None | None | None | None | I |
| S/R | 0.6255 | likely_pathogenic | 0.6516 | pathogenic | -0.286 | Destabilizing | 0.782 | D | 0.394 | neutral | N | 0.506952299 | None | None | I |
| S/T | 0.0823 | likely_benign | 0.0801 | benign | -0.306 | Destabilizing | 0.296 | N | 0.371 | neutral | N | 0.502815916 | None | None | I |
| S/V | 0.1663 | likely_benign | 0.1683 | benign | -0.275 | Destabilizing | 0.906 | D | 0.516 | neutral | None | None | None | None | I |
| S/W | 0.3829 | ambiguous | 0.3754 | ambiguous | -1.03 | Destabilizing | 0.991 | D | 0.666 | neutral | None | None | None | None | I |
| S/Y | 0.1815 | likely_benign | 0.1903 | benign | -0.749 | Destabilizing | 0.967 | D | 0.556 | 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.