Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9597 | 29014;29015;29016 | chr2:178707778;178707777;178707776 | chr2:179572505;179572504;179572503 |
| N2AB | 9280 | 28063;28064;28065 | chr2:178707778;178707777;178707776 | chr2:179572505;179572504;179572503 |
| N2A | 8353 | 25282;25283;25284 | chr2:178707778;178707777;178707776 | chr2:179572505;179572504;179572503 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs761562146  |
-0.327 | None | None | 0.059 | 0.092 | 0.0846915920261 | 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/A | rs761562146 |
-0.327 | None | None | 0.059 | 0.092 | 0.0846915920261 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs761562146 |
-0.327 | None | None | 0.059 | 0.092 | 0.0846915920261 | gnomAD-4.0.0 | 2.48129E-06 | None | None | None | None | N | None | 5.34131E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs367748413 |
0.14 | 0.055 | None | 0.381 | 0.073 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs367748413 |
0.14 | 0.055 | None | 0.381 | 0.073 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.23E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs367748413 |
0.14 | 0.055 | None | 0.381 | 0.073 | None | gnomAD-4.0.0 | 5.58257E-06 | None | None | None | None | N | None | 8.01004E-05 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 1.69692E-06 | 0 | 0 |
| T/S | rs761562146 |
-0.34 | None | None | 0.081 | 0.075 | 0.0806252709748 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/S | rs761562146 |
-0.34 | None | None | 0.081 | 0.075 | 0.0806252709748 | gnomAD-4.0.0 | 6.84979E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00468E-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 | 0.0712 | likely_benign | 0.073 | benign | -0.228 | Destabilizing | None | N | 0.059 | neutral | None | None | None | None | N |
| T/C | 0.4085 | ambiguous | 0.3864 | ambiguous | -0.344 | Destabilizing | 0.356 | N | 0.332 | neutral | None | None | None | None | N |
| T/D | 0.2705 | likely_benign | 0.2591 | benign | 0.413 | Stabilizing | 0.031 | N | 0.311 | neutral | None | None | None | None | N |
| T/E | 0.209 | likely_benign | 0.1978 | benign | 0.347 | Stabilizing | 0.007 | N | 0.265 | neutral | None | None | None | None | N |
| T/F | 0.1736 | likely_benign | 0.1572 | benign | -0.751 | Destabilizing | 0.356 | N | 0.421 | neutral | None | None | None | None | N |
| T/G | 0.1816 | likely_benign | 0.1774 | benign | -0.347 | Destabilizing | 0.016 | N | 0.278 | neutral | None | None | None | None | N |
| T/H | 0.1763 | likely_benign | 0.1568 | benign | -0.554 | Destabilizing | 0.356 | N | 0.383 | neutral | None | None | None | None | N |
| T/I | 0.1102 | likely_benign | 0.1099 | benign | -0.037 | Destabilizing | 0.055 | N | 0.381 | neutral | None | None | None | None | N |
| T/K | 0.1221 | likely_benign | 0.113 | benign | -0.226 | Destabilizing | None | N | 0.088 | neutral | None | None | None | None | N |
| T/L | 0.0674 | likely_benign | 0.068 | benign | -0.037 | Destabilizing | 0.016 | N | 0.286 | neutral | None | None | None | None | N |
| T/M | 0.0869 | likely_benign | 0.0794 | benign | -0.101 | Destabilizing | 0.356 | N | 0.336 | neutral | None | None | None | None | N |
| T/N | 0.095 | likely_benign | 0.0943 | benign | -0.093 | Destabilizing | 0.012 | N | 0.204 | neutral | None | None | None | None | N |
| T/P | 0.0917 | likely_benign | 0.0975 | benign | -0.072 | Destabilizing | 0.055 | N | 0.354 | neutral | None | None | None | None | N |
| T/Q | 0.1446 | likely_benign | 0.1341 | benign | -0.249 | Destabilizing | None | N | 0.098 | neutral | None | None | None | None | N |
| T/R | 0.1156 | likely_benign | 0.1011 | benign | -0.006 | Destabilizing | None | N | 0.129 | neutral | None | None | None | None | N |
| T/S | 0.0833 | likely_benign | 0.0811 | benign | -0.31 | Destabilizing | None | N | 0.081 | neutral | None | None | None | None | N |
| T/V | 0.1009 | likely_benign | 0.1051 | benign | -0.072 | Destabilizing | 0.016 | N | 0.212 | neutral | None | None | None | None | N |
| T/W | 0.4796 | ambiguous | 0.4086 | ambiguous | -0.803 | Destabilizing | 0.864 | D | 0.363 | neutral | None | None | None | None | N |
| T/Y | 0.2177 | likely_benign | 0.1973 | benign | -0.483 | Destabilizing | 0.356 | N | 0.435 | 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.