Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9057 | 27394;27395;27396 | chr2:178712856;178712855;178712854 | chr2:179577583;179577582;179577581 |
| N2AB | 8740 | 26443;26444;26445 | chr2:178712856;178712855;178712854 | chr2:179577583;179577582;179577581 |
| N2A | 7813 | 23662;23663;23664 | chr2:178712856;178712855;178712854 | chr2:179577583;179577582;179577581 |
| 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/C | None | None | 0.295 | N | 0.35 | 0.377 | 0.450831855234 | gnomAD-4.0.0 | 6.84241E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52016E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/G | rs1472858886  |
None | 0.024 | N | 0.262 | 0.162 | 0.208816687407 | gnomAD-4.0.0 | 4.78968E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29633E-06 | 0 | 0 |
| S/N | rs768427223 |
0.285 | 0.055 | N | 0.234 | 0.086 | 0.143124449307 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.9431E-04 | None | 0 | 0 | 0 |
| S/N | rs768427223 |
0.285 | 0.055 | N | 0.234 | 0.086 | 0.143124449307 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13565E-04 | 0 |
| S/N | rs768427223 |
0.285 | 0.055 | N | 0.234 | 0.086 | 0.143124449307 | gnomAD-4.0.0 | 1.17743E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.08608E-04 | 0 |
| S/R | rs1472858886 |
0.274 | 0.029 | N | 0.367 | 0.107 | 0.104622674875 | 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 |
| S/R | rs1472858886 |
0.274 | 0.029 | N | 0.367 | 0.107 | 0.104622674875 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1472858886 |
0.274 | 0.029 | N | 0.367 | 0.107 | 0.104622674875 | gnomAD-4.0.0 | 1.8591E-06 | None | None | None | None | N | None | 1.33461E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69523E-06 | 0 | 0 |
| S/T | rs768427223 |
None | None | N | 0.133 | 0.095 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs768427223 |
None | None | N | 0.133 | 0.095 | None | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | N | None | 2.41208E-05 | 0 | 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 | 0.0748 | likely_benign | 0.073 | benign | -0.331 | Destabilizing | 0.007 | N | 0.258 | neutral | None | None | None | None | N |
| S/C | 0.1229 | likely_benign | 0.1349 | benign | -0.395 | Destabilizing | 0.295 | N | 0.35 | neutral | N | 0.504196021 | None | None | N |
| S/D | 0.1863 | likely_benign | 0.1987 | benign | 0.646 | Stabilizing | 0.016 | N | 0.243 | neutral | None | None | None | None | N |
| S/E | 0.2307 | likely_benign | 0.2528 | benign | 0.57 | Stabilizing | None | N | 0.204 | neutral | None | None | None | None | N |
| S/F | 0.1341 | likely_benign | 0.1408 | benign | -0.966 | Destabilizing | 0.214 | N | 0.503 | neutral | None | None | None | None | N |
| S/G | 0.0843 | likely_benign | 0.086 | benign | -0.43 | Destabilizing | 0.024 | N | 0.262 | neutral | N | 0.454966907 | None | None | N |
| S/H | 0.1574 | likely_benign | 0.1682 | benign | -0.751 | Destabilizing | 0.628 | D | 0.353 | neutral | None | None | None | None | N |
| S/I | 0.0964 | likely_benign | 0.1021 | benign | -0.201 | Destabilizing | None | N | 0.229 | neutral | N | 0.458833931 | None | None | N |
| S/K | 0.2177 | likely_benign | 0.2295 | benign | -0.204 | Destabilizing | None | N | 0.141 | neutral | None | None | None | None | N |
| S/L | 0.0846 | likely_benign | 0.0883 | benign | -0.201 | Destabilizing | 0.007 | N | 0.317 | neutral | None | None | None | None | N |
| S/M | 0.1386 | likely_benign | 0.1422 | benign | -0.243 | Destabilizing | 0.214 | N | 0.353 | neutral | None | None | None | None | N |
| S/N | 0.0832 | likely_benign | 0.0848 | benign | -0.08 | Destabilizing | 0.055 | N | 0.234 | neutral | N | 0.453369396 | None | None | N |
| S/P | 0.4253 | ambiguous | 0.4433 | ambiguous | -0.217 | Destabilizing | 0.136 | N | 0.4 | neutral | None | None | None | None | N |
| S/Q | 0.2182 | likely_benign | 0.2274 | benign | -0.219 | Destabilizing | 0.072 | N | 0.244 | neutral | None | None | None | None | N |
| S/R | 0.1567 | likely_benign | 0.1648 | benign | -0.059 | Destabilizing | 0.029 | N | 0.367 | neutral | N | 0.392416938 | None | None | N |
| S/T | 0.064 | likely_benign | 0.0619 | benign | -0.207 | Destabilizing | None | N | 0.133 | neutral | N | 0.445211273 | None | None | N |
| S/V | 0.104 | likely_benign | 0.1071 | benign | -0.217 | Destabilizing | None | N | 0.178 | neutral | None | None | None | None | N |
| S/W | 0.1864 | likely_benign | 0.2092 | benign | -1.007 | Destabilizing | 0.864 | D | 0.433 | neutral | None | None | None | None | N |
| S/Y | 0.1167 | likely_benign | 0.1255 | benign | -0.687 | Destabilizing | 0.356 | N | 0.487 | 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.