Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21869 | 65830;65831;65832 | chr2:178583198;178583197;178583196 | chr2:179447925;179447924;179447923 |
| N2AB | 20228 | 60907;60908;60909 | chr2:178583198;178583197;178583196 | chr2:179447925;179447924;179447923 |
| N2A | 19301 | 58126;58127;58128 | chr2:178583198;178583197;178583196 | chr2:179447925;179447924;179447923 |
| N2B | 12804 | 38635;38636;38637 | chr2:178583198;178583197;178583196 | chr2:179447925;179447924;179447923 |
| Novex-1 | 12929 | 39010;39011;39012 | chr2:178583198;178583197;178583196 | chr2:179447925;179447924;179447923 |
| Novex-2 | 12996 | 39211;39212;39213 | chr2:178583198;178583197;178583196 | chr2:179447925;179447924;179447923 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs960935807  |
-1.023 | 0.309 | N | 0.557 | 0.256 | 0.4897983601 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| M/I | rs960935807 |
-1.023 | 0.309 | N | 0.557 | 0.256 | 0.4897983601 | gnomAD-4.0.0 | 2.74647E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60827E-06 | 0 | 0 |
| M/T | None | None | 0.684 | D | 0.505 | 0.401 | 0.812333785961 | gnomAD-4.0.0 | 2.05905E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70535E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.7034 | likely_pathogenic | 0.5952 | pathogenic | -1.105 | Destabilizing | 0.543 | D | 0.511 | neutral | None | None | None | None | N |
| M/C | 0.8716 | likely_pathogenic | 0.8177 | pathogenic | -1.116 | Destabilizing | 0.996 | D | 0.589 | neutral | None | None | None | None | N |
| M/D | 0.9587 | likely_pathogenic | 0.9383 | pathogenic | 0.055 | Stabilizing | 0.984 | D | 0.643 | neutral | None | None | None | None | N |
| M/E | 0.8258 | likely_pathogenic | 0.7503 | pathogenic | 0.077 | Stabilizing | 0.953 | D | 0.615 | neutral | None | None | None | None | N |
| M/F | 0.6141 | likely_pathogenic | 0.5515 | ambiguous | -0.398 | Destabilizing | 0.742 | D | 0.571 | neutral | None | None | None | None | N |
| M/G | 0.8274 | likely_pathogenic | 0.7403 | pathogenic | -1.402 | Destabilizing | 0.953 | D | 0.613 | neutral | None | None | None | None | N |
| M/H | 0.8542 | likely_pathogenic | 0.7924 | pathogenic | -0.719 | Destabilizing | 0.996 | D | 0.631 | neutral | None | None | None | None | N |
| M/I | 0.8352 | likely_pathogenic | 0.7846 | pathogenic | -0.367 | Destabilizing | 0.309 | N | 0.557 | neutral | N | 0.482105075 | None | None | N |
| M/K | 0.6137 | likely_pathogenic | 0.4742 | ambiguous | 0.038 | Stabilizing | 0.815 | D | 0.528 | neutral | N | 0.506387444 | None | None | N |
| M/L | 0.239 | likely_benign | 0.2026 | benign | -0.367 | Destabilizing | 0.003 | N | 0.233 | neutral | N | 0.454222253 | None | None | N |
| M/N | 0.8263 | likely_pathogenic | 0.7685 | pathogenic | 0.139 | Stabilizing | 0.984 | D | 0.632 | neutral | None | None | None | None | N |
| M/P | 0.9758 | likely_pathogenic | 0.9604 | pathogenic | -0.584 | Destabilizing | 0.984 | D | 0.634 | neutral | None | None | None | None | N |
| M/Q | 0.4915 | ambiguous | 0.3893 | ambiguous | 0.083 | Stabilizing | 0.984 | D | 0.584 | neutral | None | None | None | None | N |
| M/R | 0.6556 | likely_pathogenic | 0.5113 | ambiguous | 0.289 | Stabilizing | 0.939 | D | 0.592 | neutral | N | 0.479066057 | None | None | N |
| M/S | 0.7413 | likely_pathogenic | 0.6434 | pathogenic | -0.473 | Destabilizing | 0.854 | D | 0.52 | neutral | None | None | None | None | N |
| M/T | 0.6158 | likely_pathogenic | 0.5005 | ambiguous | -0.328 | Destabilizing | 0.684 | D | 0.505 | neutral | D | 0.527338719 | None | None | N |
| M/V | 0.2393 | likely_benign | 0.1992 | benign | -0.584 | Destabilizing | 0.309 | N | 0.429 | neutral | N | 0.492802071 | None | None | N |
| M/W | 0.8729 | likely_pathogenic | 0.8293 | pathogenic | -0.392 | Destabilizing | 0.996 | D | 0.589 | neutral | None | None | None | None | N |
| M/Y | 0.814 | likely_pathogenic | 0.7635 | pathogenic | -0.275 | Destabilizing | 0.953 | D | 0.606 | neutral | None | None | None | None | N |
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.