Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24944 | 75055;75056;75057 | chr2:178571302;178571301;178571300 | chr2:179436029;179436028;179436027 |
| N2AB | 23303 | 70132;70133;70134 | chr2:178571302;178571301;178571300 | chr2:179436029;179436028;179436027 |
| N2A | 22376 | 67351;67352;67353 | chr2:178571302;178571301;178571300 | chr2:179436029;179436028;179436027 |
| N2B | 15879 | 47860;47861;47862 | chr2:178571302;178571301;178571300 | chr2:179436029;179436028;179436027 |
| Novex-1 | 16004 | 48235;48236;48237 | chr2:178571302;178571301;178571300 | chr2:179436029;179436028;179436027 |
| Novex-2 | 16071 | 48436;48437;48438 | chr2:178571302;178571301;178571300 | chr2:179436029;179436028;179436027 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | rs779868325  |
-1.881 | 0.904 | N | 0.614 | 0.37 | 0.33110744837 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| H/N | rs779868325 |
-1.881 | 0.904 | N | 0.614 | 0.37 | 0.33110744837 | gnomAD-4.0.0 | 3.60101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93753E-06 | 0 | 0 |
| H/R | rs1380943129 |
-1.693 | 0.97 | N | 0.625 | 0.488 | 0.359557344763 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs1380943129 |
-1.693 | 0.97 | N | 0.625 | 0.488 | 0.359557344763 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs1380943129 |
-1.693 | 0.97 | N | 0.625 | 0.488 | 0.359557344763 | gnomAD-4.0.0 | 6.57696E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8965 | likely_pathogenic | 0.877 | pathogenic | -1.56 | Destabilizing | 0.86 | D | 0.623 | neutral | None | None | None | None | N |
| H/C | 0.3572 | ambiguous | 0.3401 | ambiguous | -1.012 | Destabilizing | 0.998 | D | 0.765 | deleterious | None | None | None | None | N |
| H/D | 0.922 | likely_pathogenic | 0.9109 | pathogenic | -1.499 | Destabilizing | 0.99 | D | 0.659 | neutral | N | 0.51659329 | None | None | N |
| H/E | 0.8977 | likely_pathogenic | 0.8745 | pathogenic | -1.356 | Destabilizing | 0.926 | D | 0.6 | neutral | None | None | None | None | N |
| H/F | 0.3867 | ambiguous | 0.3906 | ambiguous | 0.031 | Stabilizing | 0.915 | D | 0.654 | neutral | None | None | None | None | N |
| H/G | 0.9458 | likely_pathogenic | 0.9342 | pathogenic | -1.918 | Destabilizing | 0.926 | D | 0.645 | neutral | None | None | None | None | N |
| H/I | 0.4473 | ambiguous | 0.4326 | ambiguous | -0.527 | Destabilizing | 0.956 | D | 0.743 | deleterious | None | None | None | None | N |
| H/K | 0.8689 | likely_pathogenic | 0.8337 | pathogenic | -1.404 | Destabilizing | 0.978 | D | 0.655 | neutral | None | None | None | None | N |
| H/L | 0.3353 | likely_benign | 0.3199 | benign | -0.527 | Destabilizing | 0.698 | D | 0.692 | prob.neutral | N | 0.48831061 | None | None | N |
| H/M | 0.78 | likely_pathogenic | 0.7708 | pathogenic | -0.766 | Destabilizing | 0.998 | D | 0.728 | prob.delet. | None | None | None | None | N |
| H/N | 0.4472 | ambiguous | 0.4209 | ambiguous | -1.641 | Destabilizing | 0.904 | D | 0.614 | neutral | N | 0.501701195 | None | None | N |
| H/P | 0.9857 | likely_pathogenic | 0.9836 | pathogenic | -0.858 | Destabilizing | 0.99 | D | 0.714 | prob.delet. | N | 0.504601553 | None | None | N |
| H/Q | 0.7062 | likely_pathogenic | 0.6661 | pathogenic | -1.277 | Destabilizing | 0.97 | D | 0.638 | neutral | N | 0.509512602 | None | None | N |
| H/R | 0.5338 | ambiguous | 0.4725 | ambiguous | -1.681 | Destabilizing | 0.97 | D | 0.625 | neutral | N | 0.49267628 | None | None | N |
| H/S | 0.7582 | likely_pathogenic | 0.7294 | pathogenic | -1.749 | Destabilizing | 0.926 | D | 0.636 | neutral | None | None | None | None | N |
| H/T | 0.7691 | likely_pathogenic | 0.7414 | pathogenic | -1.509 | Destabilizing | 0.978 | D | 0.657 | neutral | None | None | None | None | N |
| H/V | 0.5011 | ambiguous | 0.4836 | ambiguous | -0.858 | Destabilizing | 0.956 | D | 0.709 | prob.delet. | None | None | None | None | N |
| H/W | 0.4188 | ambiguous | 0.4109 | ambiguous | 0.351 | Stabilizing | 0.994 | D | 0.732 | prob.delet. | None | None | None | None | N |
| H/Y | 0.137 | likely_benign | 0.1323 | benign | 0.312 | Stabilizing | 0.014 | N | 0.481 | neutral | N | 0.491870991 | 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.