Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25805 | 77638;77639;77640 | chr2:178568719;178568718;178568717 | chr2:179433446;179433445;179433444 |
| N2AB | 24164 | 72715;72716;72717 | chr2:178568719;178568718;178568717 | chr2:179433446;179433445;179433444 |
| N2A | 23237 | 69934;69935;69936 | chr2:178568719;178568718;178568717 | chr2:179433446;179433445;179433444 |
| N2B | 16740 | 50443;50444;50445 | chr2:178568719;178568718;178568717 | chr2:179433446;179433445;179433444 |
| Novex-1 | 16865 | 50818;50819;50820 | chr2:178568719;178568718;178568717 | chr2:179433446;179433445;179433444 |
| Novex-2 | 16932 | 51019;51020;51021 | chr2:178568719;178568718;178568717 | chr2:179433446;179433445;179433444 |
| 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 | None | None | 0.027 | N | 0.259 | 0.155 | 0.181679512989 | gnomAD-4.0.0 | 1.36885E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79929E-06 | 0 | 0 |
| S/N | None | None | None | N | 0.117 | 0.159 | 0.0297737177859 | gnomAD-4.0.0 | 4.77713E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 8.34307E-05 | 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 | 0.0829 | likely_benign | 0.0733 | benign | -0.542 | Destabilizing | 0.067 | N | 0.267 | neutral | None | None | None | None | I |
| S/C | 0.0815 | likely_benign | 0.0781 | benign | -0.371 | Destabilizing | 0.915 | D | 0.338 | neutral | D | 0.52479181 | None | None | I |
| S/D | 0.1987 | likely_benign | 0.2241 | benign | 0.727 | Stabilizing | 0.081 | N | 0.2 | neutral | None | None | None | None | I |
| S/E | 0.3377 | likely_benign | 0.3415 | ambiguous | 0.691 | Stabilizing | 0.035 | N | 0.191 | neutral | None | None | None | None | I |
| S/F | 0.1661 | likely_benign | 0.1348 | benign | -0.992 | Destabilizing | 0.555 | D | 0.359 | neutral | None | None | None | None | I |
| S/G | 0.0661 | likely_benign | 0.0691 | benign | -0.71 | Destabilizing | 0.027 | N | 0.259 | neutral | N | 0.484277659 | None | None | I |
| S/H | 0.1201 | likely_benign | 0.1239 | benign | -1.038 | Destabilizing | 0.001 | N | 0.167 | neutral | None | None | None | None | I |
| S/I | 0.1236 | likely_benign | 0.1152 | benign | -0.216 | Destabilizing | 0.484 | N | 0.365 | neutral | N | 0.501154146 | None | None | I |
| S/K | 0.3259 | likely_benign | 0.3383 | benign | -0.194 | Destabilizing | 0.035 | N | 0.214 | neutral | None | None | None | None | I |
| S/L | 0.0985 | likely_benign | 0.085 | benign | -0.216 | Destabilizing | 0.149 | N | 0.323 | neutral | None | None | None | None | I |
| S/M | 0.1743 | likely_benign | 0.1505 | benign | -0.218 | Destabilizing | 0.791 | D | 0.305 | neutral | None | None | None | None | I |
| S/N | 0.0699 | likely_benign | 0.0717 | benign | -0.089 | Destabilizing | None | N | 0.117 | neutral | N | 0.44544056 | None | None | I |
| S/P | 0.1253 | likely_benign | 0.1104 | benign | -0.294 | Destabilizing | 0.555 | D | 0.299 | neutral | None | None | None | None | I |
| S/Q | 0.2353 | likely_benign | 0.2292 | benign | -0.191 | Destabilizing | 0.149 | N | 0.249 | neutral | None | None | None | None | I |
| S/R | 0.2718 | likely_benign | 0.289 | benign | -0.124 | Destabilizing | None | N | 0.176 | neutral | N | 0.518570094 | None | None | I |
| S/T | 0.0705 | likely_benign | 0.0642 | benign | -0.216 | Destabilizing | 0.027 | N | 0.217 | neutral | N | 0.494559871 | None | None | I |
| S/V | 0.1392 | likely_benign | 0.1201 | benign | -0.294 | Destabilizing | 0.262 | N | 0.347 | neutral | None | None | None | None | I |
| S/W | 0.2678 | likely_benign | 0.2564 | benign | -0.981 | Destabilizing | 0.935 | D | 0.427 | neutral | None | None | None | None | I |
| S/Y | 0.1271 | likely_benign | 0.1189 | benign | -0.677 | Destabilizing | 0.38 | N | 0.364 | neutral | None | None | None | None | I |
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.