Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35981 | 108166;108167;108168 | chr2:178527047;178527046;178527045 | chr2:179391774;179391773;179391772 |
| N2AB | 34340 | 103243;103244;103245 | chr2:178527047;178527046;178527045 | chr2:179391774;179391773;179391772 |
| N2A | 33413 | 100462;100463;100464 | chr2:178527047;178527046;178527045 | chr2:179391774;179391773;179391772 |
| N2B | 26916 | 80971;80972;80973 | chr2:178527047;178527046;178527045 | chr2:179391774;179391773;179391772 |
| Novex-1 | 27041 | 81346;81347;81348 | chr2:178527047;178527046;178527045 | chr2:179391774;179391773;179391772 |
| Novex-2 | 27108 | 81547;81548;81549 | chr2:178527047;178527046;178527045 | chr2:179391774;179391773;179391772 |
| 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/P | None | None | 0.999 | N | 0.702 | 0.374 | 0.40318662893 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.721(OBSL1) -0.053(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.115 | likely_benign | 0.1087 | benign | -0.484 | Destabilizing | 0.948 | D | 0.443 | neutral | D | 0.535849133 | None | -0.536(OBSL1) -0.058(OBSCN) | N |
| S/C | 0.2181 | likely_benign | 0.2115 | benign | -0.347 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.518955686 | None | -0.343(OBSL1) -0.013(OBSCN) | N |
| S/D | 0.6809 | likely_pathogenic | 0.5868 | pathogenic | 0.246 | Stabilizing | 0.992 | D | 0.501 | neutral | None | None | None | -0.076(OBSL1) -0.15(OBSCN) | N |
| S/E | 0.6339 | likely_pathogenic | 0.5436 | ambiguous | 0.167 | Stabilizing | 0.992 | D | 0.508 | neutral | None | None | None | -0.18(OBSL1) -0.209(OBSCN) | N |
| S/F | 0.3445 | ambiguous | 0.3077 | benign | -1.05 | Destabilizing | 0.999 | D | 0.745 | deleterious | D | 0.536715925 | None | -0.829(OBSL1) 0.147(OBSCN) | N |
| S/G | 0.27 | likely_benign | 0.2406 | benign | -0.614 | Destabilizing | 0.992 | D | 0.453 | neutral | None | None | None | -0.455(OBSL1) -0.069(OBSCN) | N |
| S/H | 0.4968 | ambiguous | 0.432 | ambiguous | -1.132 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | -0.545(OBSL1) 0.653(OBSCN) | N |
| S/I | 0.3051 | likely_benign | 0.2764 | benign | -0.268 | Destabilizing | 0.995 | D | 0.727 | prob.delet. | None | None | None | -0.822(OBSL1) -0.061(OBSCN) | N |
| S/K | 0.7893 | likely_pathogenic | 0.7087 | pathogenic | -0.443 | Destabilizing | 0.983 | D | 0.507 | neutral | None | None | None | -0.989(OBSL1) -0.137(OBSCN) | N |
| S/L | 0.1938 | likely_benign | 0.1804 | benign | -0.268 | Destabilizing | 0.983 | D | 0.616 | neutral | None | None | None | -0.822(OBSL1) -0.061(OBSCN) | N |
| S/M | 0.31 | likely_benign | 0.3055 | benign | -0.029 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | -0.566(OBSL1) 0.263(OBSCN) | N |
| S/N | 0.3079 | likely_benign | 0.2614 | benign | -0.215 | Destabilizing | 0.992 | D | 0.508 | neutral | None | None | None | -0.482(OBSL1) -0.409(OBSCN) | N |
| S/P | 0.9614 | likely_pathogenic | 0.9333 | pathogenic | -0.31 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | N | 0.507092402 | None | -0.721(OBSL1) -0.053(OBSCN) | N |
| S/Q | 0.6158 | likely_pathogenic | 0.5538 | ambiguous | -0.441 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | -0.516(OBSL1) -0.309(OBSCN) | N |
| S/R | 0.6767 | likely_pathogenic | 0.5823 | pathogenic | -0.283 | Destabilizing | 0.998 | D | 0.702 | prob.neutral | None | None | None | -1.125(OBSL1) -0.073(OBSCN) | N |
| S/T | 0.0921 | likely_benign | 0.0879 | benign | -0.323 | Destabilizing | 0.198 | N | 0.239 | neutral | N | 0.452190387 | None | -0.685(OBSL1) -0.301(OBSCN) | N |
| S/V | 0.2984 | likely_benign | 0.2793 | benign | -0.31 | Destabilizing | 0.983 | D | 0.623 | neutral | None | None | None | -0.721(OBSL1) -0.053(OBSCN) | N |
| S/W | 0.6262 | likely_pathogenic | 0.5645 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | -0.91(OBSL1) 0.273(OBSCN) | N |
| S/Y | 0.3167 | likely_benign | 0.2809 | benign | -0.749 | Destabilizing | 0.999 | D | 0.751 | deleterious | N | 0.487924963 | None | -0.724(OBSL1) 0.393(OBSCN) | 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.