Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30075 | 90448;90449;90450 | chr2:178552677;178552676;178552675 | chr2:179417404;179417403;179417402 |
| N2AB | 28434 | 85525;85526;85527 | chr2:178552677;178552676;178552675 | chr2:179417404;179417403;179417402 |
| N2A | 27507 | 82744;82745;82746 | chr2:178552677;178552676;178552675 | chr2:179417404;179417403;179417402 |
| N2B | 21010 | 63253;63254;63255 | chr2:178552677;178552676;178552675 | chr2:179417404;179417403;179417402 |
| Novex-1 | 21135 | 63628;63629;63630 | chr2:178552677;178552676;178552675 | chr2:179417404;179417403;179417402 |
| Novex-2 | 21202 | 63829;63830;63831 | chr2:178552677;178552676;178552675 | chr2:179417404;179417403;179417402 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/L | rs1439429977  |
0.271 | 0.27 | N | 0.409 | 0.153 | 0.36355261348 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Q/L | rs1439429977 |
0.271 | 0.27 | N | 0.409 | 0.153 | 0.36355261348 | gnomAD-4.0.0 | 4.77315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29812E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1142 | likely_benign | 0.1141 | benign | -0.121 | Destabilizing | 0.013 | N | 0.231 | neutral | None | None | None | None | N |
| Q/C | 0.5246 | ambiguous | 0.5069 | ambiguous | -0.314 | Destabilizing | 0.995 | D | 0.347 | neutral | None | None | None | None | N |
| Q/D | 0.1422 | likely_benign | 0.1425 | benign | -0.322 | Destabilizing | 0.329 | N | 0.397 | neutral | None | None | None | None | N |
| Q/E | 0.0618 | likely_benign | 0.0612 | benign | -0.384 | Destabilizing | 0.003 | N | 0.154 | neutral | N | 0.396747244 | None | None | N |
| Q/F | 0.4983 | ambiguous | 0.487 | ambiguous | -0.586 | Destabilizing | 0.944 | D | 0.381 | neutral | None | None | None | None | N |
| Q/G | 0.1595 | likely_benign | 0.1524 | benign | -0.186 | Destabilizing | 0.495 | N | 0.409 | neutral | None | None | None | None | N |
| Q/H | 0.1519 | likely_benign | 0.1458 | benign | 0.046 | Stabilizing | 0.927 | D | 0.395 | neutral | N | 0.499434468 | None | None | N |
| Q/I | 0.2054 | likely_benign | 0.2033 | benign | -0.041 | Destabilizing | 0.543 | D | 0.41 | neutral | None | None | None | None | N |
| Q/K | 0.0759 | likely_benign | 0.0749 | benign | -0.161 | Destabilizing | 0.002 | N | 0.249 | neutral | N | 0.420376252 | None | None | N |
| Q/L | 0.0923 | likely_benign | 0.0909 | benign | -0.041 | Destabilizing | 0.27 | N | 0.409 | neutral | N | 0.472978586 | None | None | N |
| Q/M | 0.2028 | likely_benign | 0.2028 | benign | -0.113 | Destabilizing | 0.944 | D | 0.394 | neutral | None | None | None | None | N |
| Q/N | 0.1224 | likely_benign | 0.1263 | benign | -0.401 | Destabilizing | 0.031 | N | 0.279 | neutral | None | None | None | None | N |
| Q/P | 0.0788 | likely_benign | 0.0786 | benign | -0.048 | Destabilizing | 0.784 | D | 0.453 | neutral | N | 0.47030364 | None | None | N |
| Q/R | 0.1161 | likely_benign | 0.1088 | benign | 0.054 | Stabilizing | 0.27 | N | 0.411 | neutral | N | 0.473498661 | None | None | N |
| Q/S | 0.1261 | likely_benign | 0.1327 | benign | -0.38 | Destabilizing | 0.329 | N | 0.333 | neutral | None | None | None | None | N |
| Q/T | 0.0995 | likely_benign | 0.1026 | benign | -0.338 | Destabilizing | 0.013 | N | 0.26 | neutral | None | None | None | None | N |
| Q/V | 0.1386 | likely_benign | 0.14 | benign | -0.048 | Destabilizing | 0.031 | N | 0.285 | neutral | None | None | None | None | N |
| Q/W | 0.4707 | ambiguous | 0.424 | ambiguous | -0.687 | Destabilizing | 0.995 | D | 0.356 | neutral | None | None | None | None | N |
| Q/Y | 0.34 | likely_benign | 0.3229 | benign | -0.395 | Destabilizing | 0.981 | D | 0.435 | 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.