Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17331 | 52216;52217;52218 | chr2:178609319;178609318;178609317 | chr2:179474046;179474045;179474044 |
| N2AB | 15690 | 47293;47294;47295 | chr2:178609319;178609318;178609317 | chr2:179474046;179474045;179474044 |
| N2A | 14763 | 44512;44513;44514 | chr2:178609319;178609318;178609317 | chr2:179474046;179474045;179474044 |
| N2B | 8266 | 25021;25022;25023 | chr2:178609319;178609318;178609317 | chr2:179474046;179474045;179474044 |
| Novex-1 | 8391 | 25396;25397;25398 | chr2:178609319;178609318;178609317 | chr2:179474046;179474045;179474044 |
| Novex-2 | 8458 | 25597;25598;25599 | chr2:178609319;178609318;178609317 | chr2:179474046;179474045;179474044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 0.801 | N | 0.55 | 0.174 | 0.359357374593 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/Q | rs547986881  |
0.535 | 0.961 | N | 0.502 | 0.175 | 0.31077124679 | gnomAD-2.1.1 | 6.04345E-04 | None | None | None | None | N | None | 0 | 5.75E-05 | None | 0 | 0 | None | 5.43114E-03 | None | 0 | 0 | 4.28082E-04 |
| E/Q | rs547986881 |
0.535 | 0.961 | N | 0.502 | 0.175 | 0.31077124679 | gnomAD-3.1.2 | 1.44786E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.55675E-03 | 0 |
| E/Q | rs547986881 |
0.535 | 0.961 | N | 0.502 | 0.175 | 0.31077124679 | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 5.1E-03 | None |
| E/Q | rs547986881 |
0.535 | 0.961 | N | 0.502 | 0.175 | 0.31077124679 | gnomAD-4.0.0 | 2.90303E-04 | None | None | None | None | N | None | 0 | 3.36508E-05 | None | 0 | 2.24437E-05 | None | 0 | 3.31895E-04 | 2.54828E-06 | 4.92802E-03 | 2.25051E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1758 | likely_benign | 0.1907 | benign | -0.483 | Destabilizing | 0.022 | N | 0.223 | neutral | N | 0.498426896 | None | None | N |
| E/C | 0.7096 | likely_pathogenic | 0.7368 | pathogenic | 0.034 | Stabilizing | 0.998 | D | 0.597 | neutral | None | None | None | None | N |
| E/D | 0.194 | likely_benign | 0.1938 | benign | -0.828 | Destabilizing | 0.891 | D | 0.453 | neutral | N | 0.453809327 | None | None | N |
| E/F | 0.539 | ambiguous | 0.5759 | pathogenic | -0.668 | Destabilizing | 0.949 | D | 0.656 | neutral | None | None | None | None | N |
| E/G | 0.2554 | likely_benign | 0.2916 | benign | -0.734 | Destabilizing | 0.801 | D | 0.55 | neutral | N | 0.483228157 | None | None | N |
| E/H | 0.3588 | ambiguous | 0.3711 | ambiguous | -0.976 | Destabilizing | 0.991 | D | 0.505 | neutral | None | None | None | None | N |
| E/I | 0.1989 | likely_benign | 0.2285 | benign | 0.157 | Stabilizing | 0.728 | D | 0.579 | neutral | None | None | None | None | N |
| E/K | 0.1411 | likely_benign | 0.1563 | benign | 0.038 | Stabilizing | 0.891 | D | 0.474 | neutral | N | 0.485073596 | None | None | N |
| E/L | 0.343 | ambiguous | 0.3749 | ambiguous | 0.157 | Stabilizing | 0.525 | D | 0.542 | neutral | None | None | None | None | N |
| E/M | 0.3433 | ambiguous | 0.3742 | ambiguous | 0.605 | Stabilizing | 0.974 | D | 0.587 | neutral | None | None | None | None | N |
| E/N | 0.2541 | likely_benign | 0.289 | benign | -0.209 | Destabilizing | 0.991 | D | 0.525 | neutral | None | None | None | None | N |
| E/P | 0.9394 | likely_pathogenic | 0.9397 | pathogenic | -0.035 | Destabilizing | 0.974 | D | 0.539 | neutral | None | None | None | None | N |
| E/Q | 0.1183 | likely_benign | 0.1296 | benign | -0.185 | Destabilizing | 0.961 | D | 0.502 | neutral | N | 0.489442053 | None | None | N |
| E/R | 0.238 | likely_benign | 0.2528 | benign | -0.017 | Destabilizing | 0.974 | D | 0.527 | neutral | None | None | None | None | N |
| E/S | 0.2145 | likely_benign | 0.2357 | benign | -0.422 | Destabilizing | 0.728 | D | 0.455 | neutral | None | None | None | None | N |
| E/T | 0.1903 | likely_benign | 0.2135 | benign | -0.217 | Destabilizing | 0.842 | D | 0.483 | neutral | None | None | None | None | N |
| E/V | 0.1479 | likely_benign | 0.1617 | benign | -0.035 | Destabilizing | 0.005 | N | 0.294 | neutral | N | 0.452617248 | None | None | N |
| E/W | 0.8286 | likely_pathogenic | 0.8366 | pathogenic | -0.632 | Destabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| E/Y | 0.481 | ambiguous | 0.5106 | ambiguous | -0.44 | Destabilizing | 0.974 | D | 0.612 | 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.