Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15900 | 47923;47924;47925 | chr2:178617387;178617386;178617385 | chr2:179482114;179482113;179482112 |
| N2AB | 14259 | 43000;43001;43002 | chr2:178617387;178617386;178617385 | chr2:179482114;179482113;179482112 |
| N2A | 13332 | 40219;40220;40221 | chr2:178617387;178617386;178617385 | chr2:179482114;179482113;179482112 |
| N2B | 6835 | 20728;20729;20730 | chr2:178617387;178617386;178617385 | chr2:179482114;179482113;179482112 |
| Novex-1 | 6960 | 21103;21104;21105 | chr2:178617387;178617386;178617385 | chr2:179482114;179482113;179482112 |
| Novex-2 | 7027 | 21304;21305;21306 | chr2:178617387;178617386;178617385 | chr2:179482114;179482113;179482112 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.999 | N | 0.661 | 0.48 | 0.493494165309 | gnomAD-4.0.0 | 1.65614E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.56304E-05 | 0 |
| E/K | rs772625773  |
-0.829 | 1.0 | N | 0.577 | 0.428 | 0.442363741745 | gnomAD-2.1.1 | 3.68E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | None | 0 | 0 | None | 8.18E-05 | None | 0 | 5.04E-05 | 0 |
| E/K | rs772625773 |
-0.829 | 1.0 | N | 0.577 | 0.428 | 0.442363741745 | gnomAD-4.0.0 | 1.94871E-05 | None | None | None | None | N | None | 3.0954E-05 | 0 | None | 0 | 2.55872E-05 | None | 0 | 0 | 2.0862E-05 | 2.48614E-05 | 1.68327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1649 | likely_benign | 0.1633 | benign | -0.957 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.482624527 | None | None | N |
| E/C | 0.8423 | likely_pathogenic | 0.8278 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| E/D | 0.2378 | likely_benign | 0.2723 | benign | -1.339 | Destabilizing | 0.999 | D | 0.417 | neutral | N | 0.484316251 | None | None | N |
| E/F | 0.7968 | likely_pathogenic | 0.7932 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/G | 0.2526 | likely_benign | 0.2339 | benign | -1.354 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.499231432 | None | None | N |
| E/H | 0.5254 | ambiguous | 0.5232 | ambiguous | -0.737 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| E/I | 0.2931 | likely_benign | 0.3145 | benign | 0.141 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/K | 0.1208 | likely_benign | 0.1101 | benign | -1.059 | Destabilizing | 1.0 | D | 0.577 | neutral | N | 0.475403595 | None | None | N |
| E/L | 0.332 | likely_benign | 0.341 | ambiguous | 0.141 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| E/M | 0.4123 | ambiguous | 0.4199 | ambiguous | 0.675 | Stabilizing | 1.0 | D | 0.636 | neutral | None | None | None | None | N |
| E/N | 0.367 | ambiguous | 0.3974 | ambiguous | -1.476 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/P | 0.3643 | ambiguous | 0.3522 | ambiguous | -0.204 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/Q | 0.1376 | likely_benign | 0.1315 | benign | -1.302 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.465092452 | None | None | N |
| E/R | 0.2175 | likely_benign | 0.1871 | benign | -0.761 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| E/S | 0.2826 | likely_benign | 0.2889 | benign | -1.847 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| E/T | 0.2618 | likely_benign | 0.2688 | benign | -1.521 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/V | 0.1817 | likely_benign | 0.1898 | benign | -0.204 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.473803168 | None | None | N |
| E/W | 0.9027 | likely_pathogenic | 0.8944 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| E/Y | 0.7252 | likely_pathogenic | 0.7211 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.695 | prob.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.