Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35939 | 108040;108041;108042 | chr2:178527173;178527172;178527171 | chr2:179391900;179391899;179391898 |
| N2AB | 34298 | 103117;103118;103119 | chr2:178527173;178527172;178527171 | chr2:179391900;179391899;179391898 |
| N2A | 33371 | 100336;100337;100338 | chr2:178527173;178527172;178527171 | chr2:179391900;179391899;179391898 |
| N2B | 26874 | 80845;80846;80847 | chr2:178527173;178527172;178527171 | chr2:179391900;179391899;179391898 |
| Novex-1 | 26999 | 81220;81221;81222 | chr2:178527173;178527172;178527171 | chr2:179391900;179391899;179391898 |
| Novex-2 | 27066 | 81421;81422;81423 | chr2:178527173;178527172;178527171 | chr2:179391900;179391899;179391898 |
| 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/T | rs762284215  |
-0.396 | None | N | 0.168 | 0.069 | 0.0762999501168 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | -1.57(OBSL1) -0.632(OBSCN) | N | None | 0 | 0 | None | 0 | 1.5361E-04 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs762284215 |
-0.396 | None | N | 0.168 | 0.069 | 0.0762999501168 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -1.57(OBSL1) -0.632(OBSCN) | N | None | 0 | 0 | 0 | 0 | 3.84615E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs762284215 |
-0.396 | None | N | 0.168 | 0.069 | 0.0762999501168 | gnomAD-4.0.0 | 9.91381E-06 | None | None | None | -1.57(OBSL1) -0.632(OBSCN) | N | None | 0 | 0 | None | 0 | 3.34105E-04 | None | 0 | 0 | 0 | 0 | 1.60082E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1034 | likely_benign | 0.1048 | benign | -0.358 | Destabilizing | 0.007 | N | 0.269 | neutral | None | None | None | -1.035(OBSL1) -0.112(OBSCN) | N |
| S/C | 0.0979 | likely_benign | 0.1 | benign | -0.381 | Destabilizing | 0.828 | D | 0.416 | neutral | N | 0.521072508 | None | -1.186(OBSL1) -0.365(OBSCN) | N |
| S/D | 0.0856 | likely_benign | 0.0778 | benign | 0.151 | Stabilizing | None | N | 0.145 | neutral | None | None | None | -0.439(OBSL1) -0.571(OBSCN) | N |
| S/E | 0.1799 | likely_benign | 0.166 | benign | 0.081 | Stabilizing | 0.007 | N | 0.267 | neutral | None | None | None | -0.564(OBSL1) -0.673(OBSCN) | N |
| S/F | 0.2268 | likely_benign | 0.2428 | benign | -0.765 | Destabilizing | 0.214 | N | 0.469 | neutral | None | None | None | -1.257(OBSL1) -0.19(OBSCN) | N |
| S/G | 0.0768 | likely_benign | 0.0793 | benign | -0.515 | Destabilizing | 0.005 | N | 0.272 | neutral | N | 0.51045483 | None | -0.946(OBSL1) -0.084(OBSCN) | N |
| S/H | 0.0844 | likely_benign | 0.0809 | benign | -0.988 | Destabilizing | None | N | 0.177 | neutral | None | None | None | -0.864(OBSL1) 0.362(OBSCN) | N |
| S/I | 0.1204 | likely_benign | 0.117 | benign | -0.07 | Destabilizing | 0.055 | N | 0.453 | neutral | N | 0.491104968 | None | -1.34(OBSL1) -0.247(OBSCN) | N |
| S/K | 0.18 | likely_benign | 0.1642 | benign | -0.594 | Destabilizing | 0.016 | N | 0.287 | neutral | None | None | None | -1.926(OBSL1) -0.807(OBSCN) | N |
| S/L | 0.119 | likely_benign | 0.1239 | benign | -0.07 | Destabilizing | 0.016 | N | 0.352 | neutral | None | None | None | -1.34(OBSL1) -0.247(OBSCN) | N |
| S/M | 0.2071 | likely_benign | 0.2106 | benign | 0.034 | Stabilizing | 0.356 | N | 0.426 | neutral | None | None | None | -1.077(OBSL1) 0.179(OBSCN) | N |
| S/N | 0.0528 | likely_benign | 0.0508 | benign | -0.348 | Destabilizing | None | N | 0.109 | neutral | N | 0.486231176 | None | -1.226(OBSL1) -0.746(OBSCN) | N |
| S/P | 0.1497 | likely_benign | 0.1535 | benign | -0.134 | Destabilizing | None | N | 0.197 | neutral | None | None | None | -1.234(OBSL1) -0.194(OBSCN) | N |
| S/Q | 0.1613 | likely_benign | 0.1561 | benign | -0.554 | Destabilizing | 0.003 | N | 0.203 | neutral | None | None | None | -1.272(OBSL1) -0.694(OBSCN) | N |
| S/R | 0.1552 | likely_benign | 0.1488 | benign | -0.409 | Destabilizing | 0.055 | N | 0.403 | neutral | N | 0.493053525 | None | -1.997(OBSL1) -0.691(OBSCN) | N |
| S/T | 0.0829 | likely_benign | 0.0831 | benign | -0.428 | Destabilizing | None | N | 0.168 | neutral | N | 0.468376134 | None | -1.57(OBSL1) -0.632(OBSCN) | N |
| S/V | 0.153 | likely_benign | 0.1478 | benign | -0.134 | Destabilizing | 0.038 | N | 0.391 | neutral | None | None | None | -1.234(OBSL1) -0.194(OBSCN) | N |
| S/W | 0.2843 | likely_benign | 0.3013 | benign | -0.769 | Destabilizing | 0.864 | D | 0.473 | neutral | None | None | None | -1.305(OBSL1) -0.218(OBSCN) | N |
| S/Y | 0.1195 | likely_benign | 0.1178 | benign | -0.501 | Destabilizing | 0.038 | N | 0.447 | neutral | None | None | None | -1.17(OBSL1) 0.017(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.