Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24093 | 72502;72503;72504 | chr2:178573855;178573854;178573853 | chr2:179438582;179438581;179438580 |
| N2AB | 22452 | 67579;67580;67581 | chr2:178573855;178573854;178573853 | chr2:179438582;179438581;179438580 |
| N2A | 21525 | 64798;64799;64800 | chr2:178573855;178573854;178573853 | chr2:179438582;179438581;179438580 |
| N2B | 15028 | 45307;45308;45309 | chr2:178573855;178573854;178573853 | chr2:179438582;179438581;179438580 |
| Novex-1 | 15153 | 45682;45683;45684 | chr2:178573855;178573854;178573853 | chr2:179438582;179438581;179438580 |
| Novex-2 | 15220 | 45883;45884;45885 | chr2:178573855;178573854;178573853 | chr2:179438582;179438581;179438580 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | N | 0.135 | 0.089 | 0.0551355673512 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 1.26695E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs777900528  |
-0.103 | None | N | 0.141 | 0.069 | 0.253205268125 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs777900528 |
-0.103 | None | N | 0.141 | 0.069 | 0.253205268125 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs777900528 |
-0.103 | None | N | 0.141 | 0.069 | 0.253205268125 | gnomAD-4.0.0 | 3.10318E-06 | None | None | None | None | N | None | 5.34745E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48797E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0702 | likely_benign | 0.078 | benign | -0.702 | Destabilizing | None | N | 0.135 | neutral | N | 0.489113979 | None | None | N |
| T/C | 0.219 | likely_benign | 0.2319 | benign | -0.487 | Destabilizing | 0.356 | N | 0.432 | neutral | None | None | None | None | N |
| T/D | 0.2501 | likely_benign | 0.2765 | benign | -0.651 | Destabilizing | 0.038 | N | 0.457 | neutral | None | None | None | None | N |
| T/E | 0.243 | likely_benign | 0.274 | benign | -0.689 | Destabilizing | 0.038 | N | 0.416 | neutral | None | None | None | None | N |
| T/F | 0.1542 | likely_benign | 0.1783 | benign | -1.074 | Destabilizing | 0.038 | N | 0.517 | neutral | None | None | None | None | N |
| T/G | 0.1344 | likely_benign | 0.146 | benign | -0.889 | Destabilizing | 0.016 | N | 0.403 | neutral | None | None | None | None | N |
| T/H | 0.1894 | likely_benign | 0.1949 | benign | -1.284 | Destabilizing | 0.356 | N | 0.464 | neutral | None | None | None | None | N |
| T/I | 0.1037 | likely_benign | 0.1259 | benign | -0.306 | Destabilizing | None | N | 0.141 | neutral | N | 0.453425325 | None | None | N |
| T/K | 0.1811 | likely_benign | 0.1889 | benign | -0.642 | Destabilizing | 0.029 | N | 0.422 | neutral | N | 0.447862002 | None | None | N |
| T/L | 0.0652 | likely_benign | 0.0737 | benign | -0.306 | Destabilizing | None | N | 0.136 | neutral | None | None | None | None | N |
| T/M | 0.0788 | likely_benign | 0.0919 | benign | 0.184 | Stabilizing | 0.12 | N | 0.467 | neutral | None | None | None | None | N |
| T/N | 0.0907 | likely_benign | 0.0895 | benign | -0.59 | Destabilizing | 0.038 | N | 0.257 | neutral | None | None | None | None | N |
| T/P | 0.2819 | likely_benign | 0.2956 | benign | -0.409 | Destabilizing | 0.055 | N | 0.491 | neutral | N | 0.511345136 | None | None | N |
| T/Q | 0.1753 | likely_benign | 0.1825 | benign | -0.926 | Destabilizing | 0.214 | N | 0.503 | neutral | None | None | None | None | N |
| T/R | 0.1538 | likely_benign | 0.166 | benign | -0.299 | Destabilizing | 0.055 | N | 0.49 | neutral | N | 0.448344792 | None | None | N |
| T/S | 0.0751 | likely_benign | 0.0743 | benign | -0.786 | Destabilizing | None | N | 0.156 | neutral | N | 0.465775759 | None | None | N |
| T/V | 0.0834 | likely_benign | 0.103 | benign | -0.409 | Destabilizing | 0.007 | N | 0.217 | neutral | None | None | None | None | N |
| T/W | 0.4431 | ambiguous | 0.4671 | ambiguous | -1.004 | Destabilizing | 0.864 | D | 0.454 | neutral | None | None | None | None | N |
| T/Y | 0.1947 | likely_benign | 0.2086 | benign | -0.733 | Destabilizing | 0.356 | N | 0.527 | 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.