Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29786 | 89581;89582;89583 | chr2:178553649;178553648;178553647 | chr2:179418376;179418375;179418374 |
| N2AB | 28145 | 84658;84659;84660 | chr2:178553649;178553648;178553647 | chr2:179418376;179418375;179418374 |
| N2A | 27218 | 81877;81878;81879 | chr2:178553649;178553648;178553647 | chr2:179418376;179418375;179418374 |
| N2B | 20721 | 62386;62387;62388 | chr2:178553649;178553648;178553647 | chr2:179418376;179418375;179418374 |
| Novex-1 | 20846 | 62761;62762;62763 | chr2:178553649;178553648;178553647 | chr2:179418376;179418375;179418374 |
| Novex-2 | 20913 | 62962;62963;62964 | chr2:178553649;178553648;178553647 | chr2:179418376;179418375;179418374 |
| 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/I | rs753966916  |
-0.033 | 0.001 | N | 0.095 | 0.288 | None | gnomAD-2.1.1 | 3.93E-05 | None | None | None | None | N | None | 2.47954E-04 | 1.41427E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs753966916 |
-0.033 | 0.001 | N | 0.095 | 0.288 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 3.13873E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs753966916 |
-0.033 | 0.001 | N | 0.095 | 0.288 | None | gnomAD-4.0.0 | 1.85911E-05 | None | None | None | None | N | None | 2.93748E-04 | 1.00027E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.20205E-05 |
| T/S | None | None | 0.001 | N | 0.085 | 0.041 | 0.126345400529 | gnomAD-4.0.0 | 2.05257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.062 | likely_benign | 0.0577 | benign | -0.261 | Destabilizing | None | N | 0.056 | neutral | N | 0.486425098 | None | None | N |
| T/C | 0.2899 | likely_benign | 0.289 | benign | -0.258 | Destabilizing | 0.667 | D | 0.261 | neutral | None | None | None | None | N |
| T/D | 0.2448 | likely_benign | 0.2306 | benign | 0.192 | Stabilizing | 0.22 | N | 0.269 | neutral | None | None | None | None | N |
| T/E | 0.1701 | likely_benign | 0.1576 | benign | 0.102 | Stabilizing | 0.22 | N | 0.231 | neutral | None | None | None | None | N |
| T/F | 0.218 | likely_benign | 0.2061 | benign | -0.875 | Destabilizing | 0.667 | D | 0.401 | neutral | None | None | None | None | N |
| T/G | 0.1322 | likely_benign | 0.1288 | benign | -0.345 | Destabilizing | 0.055 | N | 0.241 | neutral | None | None | None | None | N |
| T/H | 0.1705 | likely_benign | 0.1769 | benign | -0.616 | Destabilizing | 0.859 | D | 0.275 | neutral | None | None | None | None | N |
| T/I | 0.1346 | likely_benign | 0.1152 | benign | -0.163 | Destabilizing | 0.001 | N | 0.095 | neutral | N | 0.518766803 | None | None | N |
| T/K | 0.1161 | likely_benign | 0.1113 | benign | -0.266 | Destabilizing | 0.22 | N | 0.233 | neutral | None | None | None | None | N |
| T/L | 0.083 | likely_benign | 0.0782 | benign | -0.163 | Destabilizing | 0.025 | N | 0.165 | neutral | None | None | None | None | N |
| T/M | 0.0965 | likely_benign | 0.0899 | benign | -0.042 | Destabilizing | 0.667 | D | 0.263 | neutral | None | None | None | None | N |
| T/N | 0.0955 | likely_benign | 0.0946 | benign | -0.048 | Destabilizing | 0.175 | N | 0.2 | neutral | N | 0.43305476 | None | None | N |
| T/P | 0.0721 | likely_benign | 0.0742 | benign | -0.169 | Destabilizing | 0.301 | N | 0.336 | neutral | N | 0.462916307 | None | None | N |
| T/Q | 0.1289 | likely_benign | 0.1292 | benign | -0.27 | Destabilizing | 0.667 | D | 0.357 | neutral | None | None | None | None | N |
| T/R | 0.1072 | likely_benign | 0.1058 | benign | -0.014 | Destabilizing | 0.22 | N | 0.361 | neutral | None | None | None | None | N |
| T/S | 0.0788 | likely_benign | 0.0804 | benign | -0.24 | Destabilizing | 0.001 | N | 0.085 | neutral | N | 0.44902429 | None | None | N |
| T/V | 0.0974 | likely_benign | 0.0858 | benign | -0.169 | Destabilizing | 0.002 | N | 0.09 | neutral | None | None | None | None | N |
| T/W | 0.4527 | ambiguous | 0.4551 | ambiguous | -0.921 | Destabilizing | 0.958 | D | 0.296 | neutral | None | None | None | None | N |
| T/Y | 0.2282 | likely_benign | 0.2237 | benign | -0.612 | Destabilizing | 0.859 | D | 0.378 | 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.