Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24938 | 75037;75038;75039 | chr2:178571320;178571319;178571318 | chr2:179436047;179436046;179436045 |
| N2AB | 23297 | 70114;70115;70116 | chr2:178571320;178571319;178571318 | chr2:179436047;179436046;179436045 |
| N2A | 22370 | 67333;67334;67335 | chr2:178571320;178571319;178571318 | chr2:179436047;179436046;179436045 |
| N2B | 15873 | 47842;47843;47844 | chr2:178571320;178571319;178571318 | chr2:179436047;179436046;179436045 |
| Novex-1 | 15998 | 48217;48218;48219 | chr2:178571320;178571319;178571318 | chr2:179436047;179436046;179436045 |
| Novex-2 | 16065 | 48418;48419;48420 | chr2:178571320;178571319;178571318 | chr2:179436047;179436046;179436045 |
| 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/R | rs747593205  |
-0.601 | 0.998 | N | 0.689 | 0.506 | 0.335910606209 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| S/R | rs747593205 |
-0.601 | 0.998 | N | 0.689 | 0.506 | 0.335910606209 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/R | rs747593205 |
-0.601 | 0.998 | N | 0.689 | 0.506 | 0.335910606209 | gnomAD-4.0.0 | 9.91715E-06 | None | None | None | None | I | None | 1.33558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2716E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2092 | likely_benign | 0.2423 | benign | -0.499 | Destabilizing | 0.98 | D | 0.587 | neutral | None | None | None | None | I |
| S/C | 0.1398 | likely_benign | 0.1682 | benign | -0.348 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.481919077 | None | None | I |
| S/D | 0.8898 | likely_pathogenic | 0.9234 | pathogenic | -0.1 | Destabilizing | 0.996 | D | 0.68 | prob.neutral | None | None | None | None | I |
| S/E | 0.9359 | likely_pathogenic | 0.9416 | pathogenic | -0.157 | Destabilizing | 0.996 | D | 0.667 | neutral | None | None | None | None | I |
| S/F | 0.6634 | likely_pathogenic | 0.7015 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| S/G | 0.2665 | likely_benign | 0.3285 | benign | -0.681 | Destabilizing | 0.994 | D | 0.583 | neutral | N | 0.474439296 | None | None | I |
| S/H | 0.7722 | likely_pathogenic | 0.7802 | pathogenic | -1.235 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| S/I | 0.5944 | likely_pathogenic | 0.6824 | pathogenic | -0.139 | Destabilizing | 0.997 | D | 0.729 | prob.delet. | N | 0.51570805 | None | None | I |
| S/K | 0.9804 | likely_pathogenic | 0.9812 | pathogenic | -0.65 | Destabilizing | 0.996 | D | 0.675 | neutral | None | None | None | None | I |
| S/L | 0.3111 | likely_benign | 0.3567 | ambiguous | -0.139 | Destabilizing | 0.992 | D | 0.67 | neutral | None | None | None | None | I |
| S/M | 0.455 | ambiguous | 0.487 | ambiguous | 0.19 | Stabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| S/N | 0.3966 | ambiguous | 0.4688 | ambiguous | -0.453 | Destabilizing | 0.994 | D | 0.684 | prob.neutral | N | 0.48624749 | None | None | I |
| S/P | 0.9783 | likely_pathogenic | 0.9793 | pathogenic | -0.227 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| S/Q | 0.8907 | likely_pathogenic | 0.8914 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| S/R | 0.9688 | likely_pathogenic | 0.97 | pathogenic | -0.469 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | N | 0.49360087 | None | None | I |
| S/T | 0.1593 | likely_benign | 0.16 | benign | -0.515 | Destabilizing | 0.543 | D | 0.491 | neutral | N | 0.491754445 | None | None | I |
| S/V | 0.4923 | ambiguous | 0.5687 | pathogenic | -0.227 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | I |
| S/W | 0.7808 | likely_pathogenic | 0.7984 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| S/Y | 0.6287 | likely_pathogenic | 0.6587 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | 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.