Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24755 | 74488;74489;74490 | chr2:178571869;178571868;178571867 | chr2:179436596;179436595;179436594 |
| N2AB | 23114 | 69565;69566;69567 | chr2:178571869;178571868;178571867 | chr2:179436596;179436595;179436594 |
| N2A | 22187 | 66784;66785;66786 | chr2:178571869;178571868;178571867 | chr2:179436596;179436595;179436594 |
| N2B | 15690 | 47293;47294;47295 | chr2:178571869;178571868;178571867 | chr2:179436596;179436595;179436594 |
| Novex-1 | 15815 | 47668;47669;47670 | chr2:178571869;178571868;178571867 | chr2:179436596;179436595;179436594 |
| Novex-2 | 15882 | 47869;47870;47871 | chr2:178571869;178571868;178571867 | chr2:179436596;179436595;179436594 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1708309108  |
None | 0.016 | N | 0.171 | 0.123 | 0.186928172975 | gnomAD-4.0.0 | 5.47455E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29715E-06 | 1.15953E-05 | 0 |
| P/T | None | None | 0.005 | N | 0.172 | 0.157 | 0.307648195649 | gnomAD-4.0.0 | 2.05296E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69878E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0646 | likely_benign | 0.064 | benign | -0.66 | Destabilizing | 0.001 | N | 0.18 | neutral | N | 0.483708159 | None | None | N |
| P/C | 0.3694 | ambiguous | 0.3697 | ambiguous | -0.413 | Destabilizing | 0.991 | D | 0.408 | neutral | None | None | None | None | N |
| P/D | 0.3309 | likely_benign | 0.3433 | ambiguous | -0.661 | Destabilizing | 0.004 | N | 0.217 | neutral | None | None | None | None | N |
| P/E | 0.2184 | likely_benign | 0.2167 | benign | -0.765 | Destabilizing | 0.209 | N | 0.363 | neutral | None | None | None | None | N |
| P/F | 0.3439 | ambiguous | 0.3334 | benign | -0.836 | Destabilizing | 0.901 | D | 0.433 | neutral | None | None | None | None | N |
| P/G | 0.3008 | likely_benign | 0.3105 | benign | -0.821 | Destabilizing | 0.209 | N | 0.382 | neutral | None | None | None | None | N |
| P/H | 0.1863 | likely_benign | 0.1764 | benign | -0.426 | Destabilizing | 0.965 | D | 0.397 | neutral | None | None | None | None | N |
| P/I | 0.1466 | likely_benign | 0.1407 | benign | -0.372 | Destabilizing | 0.39 | N | 0.417 | neutral | None | None | None | None | N |
| P/K | 0.2408 | likely_benign | 0.2421 | benign | -0.608 | Destabilizing | 0.561 | D | 0.353 | neutral | None | None | None | None | N |
| P/L | 0.0852 | likely_benign | 0.0814 | benign | -0.372 | Destabilizing | 0.166 | N | 0.405 | neutral | N | 0.490423488 | None | None | N |
| P/M | 0.1792 | likely_benign | 0.1775 | benign | -0.305 | Destabilizing | 0.901 | D | 0.416 | neutral | None | None | None | None | N |
| P/N | 0.2528 | likely_benign | 0.2532 | benign | -0.243 | Destabilizing | 0.39 | N | 0.381 | neutral | None | None | None | None | N |
| P/Q | 0.1408 | likely_benign | 0.1344 | benign | -0.51 | Destabilizing | 0.873 | D | 0.433 | neutral | D | 0.536059777 | None | None | N |
| P/R | 0.1896 | likely_benign | 0.1828 | benign | -0.037 | Destabilizing | 0.873 | D | 0.456 | neutral | D | 0.533886263 | None | None | N |
| P/S | 0.1157 | likely_benign | 0.1135 | benign | -0.556 | Destabilizing | 0.016 | N | 0.171 | neutral | N | 0.497272102 | None | None | N |
| P/T | 0.0878 | likely_benign | 0.0853 | benign | -0.568 | Destabilizing | 0.005 | N | 0.172 | neutral | N | 0.507123737 | None | None | N |
| P/V | 0.1068 | likely_benign | 0.1056 | benign | -0.433 | Destabilizing | 0.007 | N | 0.215 | neutral | None | None | None | None | N |
| P/W | 0.5518 | ambiguous | 0.5487 | ambiguous | -0.949 | Destabilizing | 0.991 | D | 0.455 | neutral | None | None | None | None | N |
| P/Y | 0.3407 | ambiguous | 0.3405 | ambiguous | -0.657 | Destabilizing | 0.965 | D | 0.44 | 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.