Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20522 | 61789;61790;61791 | chr2:178590161;178590160;178590159 | chr2:179454888;179454887;179454886 |
| N2AB | 18881 | 56866;56867;56868 | chr2:178590161;178590160;178590159 | chr2:179454888;179454887;179454886 |
| N2A | 17954 | 54085;54086;54087 | chr2:178590161;178590160;178590159 | chr2:179454888;179454887;179454886 |
| N2B | 11457 | 34594;34595;34596 | chr2:178590161;178590160;178590159 | chr2:179454888;179454887;179454886 |
| Novex-1 | 11582 | 34969;34970;34971 | chr2:178590161;178590160;178590159 | chr2:179454888;179454887;179454886 |
| Novex-2 | 11649 | 35170;35171;35172 | chr2:178590161;178590160;178590159 | chr2:179454888;179454887;179454886 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs1204056923  |
None | 0.863 | N | 0.381 | 0.198 | 0.27479166964 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/K | rs1204056923 |
None | 0.863 | N | 0.381 | 0.198 | 0.27479166964 | gnomAD-4.0.0 | 5.07532E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02495E-06 | 0 | 0 |
| R/S | rs576946726 |
-0.999 | 0.939 | N | 0.398 | 0.319 | 0.151104730317 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.05994E-04 | None | 0 | None | 0 | 0 | 0 |
| R/S | rs576946726 |
-0.999 | 0.939 | N | 0.398 | 0.319 | 0.151104730317 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94175E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | rs576946726 |
-0.999 | 0.939 | N | 0.398 | 0.319 | 0.151104730317 | gnomAD-4.0.0 | 2.48004E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.93416E-05 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7719 | likely_pathogenic | 0.869 | pathogenic | -0.539 | Destabilizing | 0.953 | D | 0.345 | neutral | None | None | None | None | N |
| R/C | 0.4952 | ambiguous | 0.6393 | pathogenic | -0.496 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | N |
| R/D | 0.7968 | likely_pathogenic | 0.8664 | pathogenic | 0.112 | Stabilizing | 0.986 | D | 0.445 | neutral | None | None | None | None | N |
| R/E | 0.6712 | likely_pathogenic | 0.7593 | pathogenic | 0.267 | Stabilizing | 0.953 | D | 0.347 | neutral | None | None | None | None | N |
| R/F | 0.9001 | likely_pathogenic | 0.9437 | pathogenic | -0.175 | Destabilizing | 0.993 | D | 0.563 | neutral | None | None | None | None | N |
| R/G | 0.5483 | ambiguous | 0.702 | pathogenic | -0.886 | Destabilizing | 0.939 | D | 0.407 | neutral | N | 0.468372455 | None | None | N |
| R/H | 0.2773 | likely_benign | 0.3478 | ambiguous | -1.225 | Destabilizing | 0.128 | N | 0.222 | neutral | None | None | None | None | N |
| R/I | 0.6677 | likely_pathogenic | 0.7656 | pathogenic | 0.398 | Stabilizing | 0.993 | D | 0.553 | neutral | None | None | None | None | N |
| R/K | 0.2767 | likely_benign | 0.3235 | benign | -0.514 | Destabilizing | 0.863 | D | 0.381 | neutral | N | 0.461634051 | None | None | N |
| R/L | 0.6493 | likely_pathogenic | 0.7511 | pathogenic | 0.398 | Stabilizing | 0.986 | D | 0.4 | neutral | None | None | None | None | N |
| R/M | 0.7203 | likely_pathogenic | 0.7964 | pathogenic | -0.127 | Destabilizing | 0.999 | D | 0.407 | neutral | D | 0.52354782 | None | None | N |
| R/N | 0.6782 | likely_pathogenic | 0.7716 | pathogenic | -0.135 | Destabilizing | 0.953 | D | 0.399 | neutral | None | None | None | None | N |
| R/P | 0.8331 | likely_pathogenic | 0.9122 | pathogenic | 0.108 | Stabilizing | 0.998 | D | 0.461 | neutral | None | None | None | None | N |
| R/Q | 0.272 | likely_benign | 0.3439 | ambiguous | -0.161 | Destabilizing | 0.986 | D | 0.444 | neutral | None | None | None | None | N |
| R/S | 0.8211 | likely_pathogenic | 0.8986 | pathogenic | -0.812 | Destabilizing | 0.939 | D | 0.398 | neutral | N | 0.474715557 | None | None | N |
| R/T | 0.6075 | likely_pathogenic | 0.7421 | pathogenic | -0.459 | Destabilizing | 0.991 | D | 0.391 | neutral | N | 0.492655228 | None | None | N |
| R/V | 0.7695 | likely_pathogenic | 0.8423 | pathogenic | 0.108 | Stabilizing | 0.993 | D | 0.546 | neutral | None | None | None | None | N |
| R/W | 0.5623 | ambiguous | 0.6605 | pathogenic | 0.126 | Stabilizing | 0.999 | D | 0.577 | neutral | N | 0.505697055 | None | None | N |
| R/Y | 0.7126 | likely_pathogenic | 0.8026 | pathogenic | 0.407 | Stabilizing | 0.986 | D | 0.467 | 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.