Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21111 | 63556;63557;63558 | chr2:178588076;178588075;178588074 | chr2:179452803;179452802;179452801 |
| N2AB | 19470 | 58633;58634;58635 | chr2:178588076;178588075;178588074 | chr2:179452803;179452802;179452801 |
| N2A | 18543 | 55852;55853;55854 | chr2:178588076;178588075;178588074 | chr2:179452803;179452802;179452801 |
| N2B | 12046 | 36361;36362;36363 | chr2:178588076;178588075;178588074 | chr2:179452803;179452802;179452801 |
| Novex-1 | 12171 | 36736;36737;36738 | chr2:178588076;178588075;178588074 | chr2:179452803;179452802;179452801 |
| Novex-2 | 12238 | 36937;36938;36939 | chr2:178588076;178588075;178588074 | chr2:179452803;179452802;179452801 |
| 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/F | rs547033801  |
-1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs547033801 |
-1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31165E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs547033801 |
-1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/F | rs547033801 |
-1.004 | 0.975 | N | 0.339 | 0.376 | 0.538421760271 | gnomAD-4.0.0 | 4.33986E-06 | None | None | None | None | N | None | 0 | 1.1676E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0691 | likely_benign | 0.0799 | benign | -0.187 | Destabilizing | 0.01 | N | 0.17 | neutral | N | 0.468655775 | None | None | N |
| S/C | 0.1184 | likely_benign | 0.1244 | benign | -0.148 | Destabilizing | 0.975 | D | 0.317 | neutral | N | 0.478954379 | None | None | N |
| S/D | 0.158 | likely_benign | 0.1594 | benign | -0.147 | Destabilizing | 0.001 | N | 0.153 | neutral | None | None | None | None | N |
| S/E | 0.217 | likely_benign | 0.2294 | benign | -0.257 | Destabilizing | 0.329 | N | 0.241 | neutral | None | None | None | None | N |
| S/F | 0.1576 | likely_benign | 0.1764 | benign | -0.83 | Destabilizing | 0.975 | D | 0.339 | neutral | N | 0.490310685 | None | None | N |
| S/G | 0.0792 | likely_benign | 0.0861 | benign | -0.269 | Destabilizing | 0.001 | N | 0.173 | neutral | None | None | None | None | N |
| S/H | 0.1739 | likely_benign | 0.1655 | benign | -0.717 | Destabilizing | 0.981 | D | 0.308 | neutral | None | None | None | None | N |
| S/I | 0.1024 | likely_benign | 0.1143 | benign | -0.102 | Destabilizing | 0.828 | D | 0.368 | neutral | None | None | None | None | N |
| S/K | 0.208 | likely_benign | 0.2009 | benign | -0.473 | Destabilizing | 0.495 | N | 0.191 | neutral | None | None | None | None | N |
| S/L | 0.0839 | likely_benign | 0.0927 | benign | -0.102 | Destabilizing | 0.704 | D | 0.298 | neutral | None | None | None | None | N |
| S/M | 0.1538 | likely_benign | 0.1775 | benign | 0.112 | Stabilizing | 0.981 | D | 0.316 | neutral | None | None | None | None | N |
| S/N | 0.0909 | likely_benign | 0.0952 | benign | -0.104 | Destabilizing | 0.329 | N | 0.197 | neutral | None | None | None | None | N |
| S/P | 0.0884 | likely_benign | 0.0913 | benign | -0.104 | Destabilizing | 0.002 | N | 0.201 | neutral | N | 0.489803705 | None | None | N |
| S/Q | 0.2104 | likely_benign | 0.2116 | benign | -0.397 | Destabilizing | 0.828 | D | 0.201 | neutral | None | None | None | None | N |
| S/R | 0.2412 | likely_benign | 0.239 | benign | -0.181 | Destabilizing | 0.828 | D | 0.303 | neutral | None | None | None | None | N |
| S/T | 0.07 | likely_benign | 0.0812 | benign | -0.203 | Destabilizing | 0.425 | N | 0.245 | neutral | N | 0.480606352 | None | None | N |
| S/V | 0.1035 | likely_benign | 0.1193 | benign | -0.104 | Destabilizing | 0.704 | D | 0.299 | neutral | None | None | None | None | N |
| S/W | 0.2985 | likely_benign | 0.3173 | benign | -0.886 | Destabilizing | 0.995 | D | 0.323 | neutral | None | None | None | None | N |
| S/Y | 0.1654 | likely_benign | 0.1662 | benign | -0.596 | Destabilizing | 0.975 | D | 0.342 | neutral | D | 0.522685048 | 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.