Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24407 | 73444;73445;73446 | chr2:178572913;178572912;178572911 | chr2:179437640;179437639;179437638 |
| N2AB | 22766 | 68521;68522;68523 | chr2:178572913;178572912;178572911 | chr2:179437640;179437639;179437638 |
| N2A | 21839 | 65740;65741;65742 | chr2:178572913;178572912;178572911 | chr2:179437640;179437639;179437638 |
| N2B | 15342 | 46249;46250;46251 | chr2:178572913;178572912;178572911 | chr2:179437640;179437639;179437638 |
| Novex-1 | 15467 | 46624;46625;46626 | chr2:178572913;178572912;178572911 | chr2:179437640;179437639;179437638 |
| Novex-2 | 15534 | 46825;46826;46827 | chr2:178572913;178572912;178572911 | chr2:179437640;179437639;179437638 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs760989943  |
-1.462 | 0.055 | N | 0.537 | 0.062 | 0.207176502487 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs760989943 |
-1.462 | 0.055 | N | 0.537 | 0.062 | 0.207176502487 | gnomAD-4.0.0 | 3.1844E-06 | None | None | None | None | I | None | 0 | 2.28728E-05 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 0 | 0 |
| L/H | rs72646896 |
-1.306 | 0.612 | N | 0.583 | 0.258 | 0.652051462523 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| L/H | rs72646896 |
-1.306 | 0.612 | N | 0.583 | 0.258 | 0.652051462523 | gnomAD-4.0.0 | 2.05315E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69878E-06 | 0 | 0 |
| L/P | rs72646896 |
None | 0.295 | N | 0.587 | 0.239 | 0.583519820621 | gnomAD-4.0.0 | 1.36877E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 8.99593E-07 | 0 | 0 |
| L/V | rs760989943 |
None | None | N | 0.217 | 0.074 | 0.128392430309 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| L/V | rs760989943 |
None | None | N | 0.217 | 0.074 | 0.128392430309 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.41974E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1173 | likely_benign | 0.1158 | benign | -1.547 | Destabilizing | None | N | 0.335 | neutral | None | None | None | None | I |
| L/C | 0.3343 | likely_benign | 0.3276 | benign | -0.864 | Destabilizing | 0.628 | D | 0.559 | neutral | None | None | None | None | I |
| L/D | 0.5031 | ambiguous | 0.5121 | ambiguous | -0.583 | Destabilizing | 0.038 | N | 0.591 | neutral | None | None | None | None | I |
| L/E | 0.2408 | likely_benign | 0.231 | benign | -0.584 | Destabilizing | None | N | 0.527 | neutral | None | None | None | None | I |
| L/F | 0.1071 | likely_benign | 0.1083 | benign | -1.084 | Destabilizing | 0.055 | N | 0.537 | neutral | N | 0.437854787 | None | None | I |
| L/G | 0.3728 | ambiguous | 0.3653 | ambiguous | -1.858 | Destabilizing | 0.072 | N | 0.563 | neutral | None | None | None | None | I |
| L/H | 0.1925 | likely_benign | 0.1931 | benign | -0.918 | Destabilizing | 0.612 | D | 0.583 | neutral | N | 0.502482268 | None | None | I |
| L/I | 0.0632 | likely_benign | 0.0655 | benign | -0.773 | Destabilizing | None | N | 0.218 | neutral | N | 0.423058692 | None | None | I |
| L/K | 0.1608 | likely_benign | 0.1564 | benign | -0.844 | Destabilizing | 0.038 | N | 0.56 | neutral | None | None | None | None | I |
| L/M | 0.0848 | likely_benign | 0.0785 | benign | -0.636 | Destabilizing | 0.002 | N | 0.276 | neutral | None | None | None | None | I |
| L/N | 0.257 | likely_benign | 0.2574 | benign | -0.586 | Destabilizing | 0.214 | N | 0.589 | neutral | None | None | None | None | I |
| L/P | 0.1221 | likely_benign | 0.1179 | benign | -1.0 | Destabilizing | 0.295 | N | 0.587 | neutral | N | 0.444415399 | None | None | I |
| L/Q | 0.1253 | likely_benign | 0.1215 | benign | -0.755 | Destabilizing | 0.12 | N | 0.589 | neutral | None | None | None | None | I |
| L/R | 0.1262 | likely_benign | 0.1282 | benign | -0.269 | Destabilizing | 0.171 | N | 0.593 | neutral | N | 0.459152779 | None | None | I |
| L/S | 0.1703 | likely_benign | 0.1658 | benign | -1.255 | Destabilizing | 0.038 | N | 0.551 | neutral | None | None | None | None | I |
| L/T | 0.1072 | likely_benign | 0.1039 | benign | -1.131 | Destabilizing | 0.031 | N | 0.489 | neutral | None | None | None | None | I |
| L/V | 0.0681 | likely_benign | 0.0663 | benign | -1.0 | Destabilizing | None | N | 0.217 | neutral | N | 0.367954771 | None | None | I |
| L/W | 0.226 | likely_benign | 0.2231 | benign | -1.074 | Destabilizing | 0.864 | D | 0.593 | neutral | None | None | None | None | I |
| L/Y | 0.2615 | likely_benign | 0.2639 | benign | -0.876 | Destabilizing | 0.356 | N | 0.581 | 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.