Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9642 | 29149;29150;29151 | chr2:178707643;178707642;178707641 | chr2:179572370;179572369;179572368 |
| N2AB | 9325 | 28198;28199;28200 | chr2:178707643;178707642;178707641 | chr2:179572370;179572369;179572368 |
| N2A | 8398 | 25417;25418;25419 | chr2:178707643;178707642;178707641 | chr2:179572370;179572369;179572368 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs367888853  |
0.062 | 0.005 | None | 0.125 | 0.069 | None | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.09E-05 | 1.65399E-04 |
| S/G | rs367888853 |
0.062 | 0.005 | None | 0.125 | 0.069 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| S/G | rs367888853 |
0.062 | 0.005 | None | 0.125 | 0.069 | None | gnomAD-4.0.0 | 3.53208E-05 | None | None | None | None | N | None | 4.00395E-05 | 0 | None | 0 | 0 | None | 4.68809E-05 | 0 | 4.32255E-05 | 0 | 0 |
| S/N | rs1461432268 |
0.017 | None | None | 0.077 | 0.167 | 0.0297737177859 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/R | None | None | None | None | 0.153 | 0.108 | 0.0401082797425 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69827E-06 | 0 | 0 |
| S/T | None | None | 0.012 | None | 0.166 | 0.133 | 0.0401082797425 | gnomAD-4.0.0 | 3.18224E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0902 | likely_benign | 0.0878 | benign | -0.208 | Destabilizing | 0.014 | N | 0.113 | neutral | None | None | None | None | N |
| S/C | 0.1437 | likely_benign | 0.126 | benign | -0.428 | Destabilizing | 0.828 | D | 0.259 | neutral | None | None | None | None | N |
| S/D | 0.1425 | likely_benign | 0.1116 | benign | 0.043 | Stabilizing | None | N | 0.073 | neutral | None | None | None | None | N |
| S/E | 0.2606 | likely_benign | 0.2127 | benign | -0.058 | Destabilizing | None | N | 0.099 | neutral | None | None | None | None | N |
| S/F | 0.2742 | likely_benign | 0.2808 | benign | -0.967 | Destabilizing | 0.628 | D | 0.309 | neutral | None | None | None | None | N |
| S/G | 0.0667 | likely_benign | 0.0641 | benign | -0.247 | Destabilizing | 0.005 | N | 0.125 | neutral | None | None | None | None | N |
| S/H | 0.1703 | likely_benign | 0.1476 | benign | -0.468 | Destabilizing | 0.214 | N | 0.271 | neutral | None | None | None | None | N |
| S/I | 0.1858 | likely_benign | 0.1681 | benign | -0.233 | Destabilizing | 0.295 | N | 0.403 | neutral | None | None | None | None | N |
| S/K | 0.2565 | likely_benign | 0.206 | benign | -0.382 | Destabilizing | None | N | 0.108 | neutral | None | None | None | None | N |
| S/L | 0.1338 | likely_benign | 0.143 | benign | -0.233 | Destabilizing | 0.072 | N | 0.289 | neutral | None | None | None | None | N |
| S/M | 0.2175 | likely_benign | 0.2135 | benign | -0.304 | Destabilizing | 0.628 | D | 0.266 | neutral | None | None | None | None | N |
| S/N | 0.0683 | likely_benign | 0.0642 | benign | -0.154 | Destabilizing | None | N | 0.077 | neutral | None | None | None | None | N |
| S/P | 0.2589 | likely_benign | 0.2681 | benign | -0.202 | Destabilizing | 0.136 | N | 0.326 | neutral | None | None | None | None | N |
| S/Q | 0.2583 | likely_benign | 0.2221 | benign | -0.351 | Destabilizing | 0.072 | N | 0.158 | neutral | None | None | None | None | N |
| S/R | 0.226 | likely_benign | 0.1823 | benign | -0.098 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| S/T | 0.093 | likely_benign | 0.0905 | benign | -0.268 | Destabilizing | 0.012 | N | 0.166 | neutral | None | None | None | None | N |
| S/V | 0.2033 | likely_benign | 0.1792 | benign | -0.202 | Destabilizing | 0.136 | N | 0.345 | neutral | None | None | None | None | N |
| S/W | 0.376 | ambiguous | 0.3701 | ambiguous | -1.069 | Destabilizing | 0.864 | D | 0.293 | neutral | None | None | None | None | N |
| S/Y | 0.1764 | likely_benign | 0.1781 | benign | -0.746 | Destabilizing | 0.628 | D | 0.34 | 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.