Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25552 | 76879;76880;76881 | chr2:178569478;178569477;178569476 | chr2:179434205;179434204;179434203 |
| N2AB | 23911 | 71956;71957;71958 | chr2:178569478;178569477;178569476 | chr2:179434205;179434204;179434203 |
| N2A | 22984 | 69175;69176;69177 | chr2:178569478;178569477;178569476 | chr2:179434205;179434204;179434203 |
| N2B | 16487 | 49684;49685;49686 | chr2:178569478;178569477;178569476 | chr2:179434205;179434204;179434203 |
| Novex-1 | 16612 | 50059;50060;50061 | chr2:178569478;178569477;178569476 | chr2:179434205;179434204;179434203 |
| Novex-2 | 16679 | 50260;50261;50262 | chr2:178569478;178569477;178569476 | chr2:179434205;179434204;179434203 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs545954490  |
-0.068 | 0.007 | N | 0.252 | 0.302 | 0.498896430806 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/Q | rs779399871 |
0.105 | 0.924 | N | 0.444 | 0.224 | 0.225215365344 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 0 | 0 |
| R/Q | rs779399871 |
0.105 | 0.924 | N | 0.444 | 0.224 | 0.225215365344 | gnomAD-4.0.0 | 1.23246E-05 | None | None | None | None | N | None | 2.99079E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49994E-06 | 1.16039E-04 | 3.31576E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4375 | ambiguous | 0.4339 | ambiguous | -0.297 | Destabilizing | 0.373 | N | 0.435 | neutral | None | None | None | None | N |
| R/C | 0.2452 | likely_benign | 0.2489 | benign | -0.269 | Destabilizing | 0.996 | D | 0.383 | neutral | None | None | None | None | N |
| R/D | 0.6429 | likely_pathogenic | 0.6452 | pathogenic | 0.037 | Stabilizing | 0.59 | D | 0.499 | neutral | None | None | None | None | N |
| R/E | 0.4204 | ambiguous | 0.4243 | ambiguous | 0.129 | Stabilizing | 0.543 | D | 0.413 | neutral | None | None | None | None | N |
| R/F | 0.7528 | likely_pathogenic | 0.7609 | pathogenic | -0.347 | Destabilizing | 0.984 | D | 0.397 | neutral | None | None | None | None | N |
| R/G | 0.2397 | likely_benign | 0.2356 | benign | -0.557 | Destabilizing | 0.007 | N | 0.252 | neutral | N | 0.474608673 | None | None | N |
| R/H | 0.1436 | likely_benign | 0.1519 | benign | -1.022 | Destabilizing | 0.953 | D | 0.427 | neutral | None | None | None | None | N |
| R/I | 0.4639 | ambiguous | 0.4415 | ambiguous | 0.373 | Stabilizing | 0.984 | D | 0.413 | neutral | None | None | None | None | N |
| R/K | 0.113 | likely_benign | 0.1069 | benign | -0.291 | Destabilizing | 0.016 | N | 0.223 | neutral | None | None | None | None | N |
| R/L | 0.3325 | likely_benign | 0.3322 | benign | 0.373 | Stabilizing | 0.918 | D | 0.491 | neutral | N | 0.413194855 | None | None | N |
| R/M | 0.4144 | ambiguous | 0.4038 | ambiguous | 0.008 | Stabilizing | 0.984 | D | 0.42 | neutral | None | None | None | None | N |
| R/N | 0.5518 | ambiguous | 0.5522 | ambiguous | 0.13 | Stabilizing | 0.037 | N | 0.273 | neutral | None | None | None | None | N |
| R/P | 0.4233 | ambiguous | 0.4289 | ambiguous | 0.171 | Stabilizing | 0.992 | D | 0.419 | neutral | N | 0.406556884 | None | None | N |
| R/Q | 0.1244 | likely_benign | 0.1267 | benign | -0.023 | Destabilizing | 0.924 | D | 0.444 | neutral | N | 0.45103838 | None | None | N |
| R/S | 0.4645 | ambiguous | 0.4699 | ambiguous | -0.434 | Destabilizing | 0.543 | D | 0.458 | neutral | None | None | None | None | N |
| R/T | 0.2644 | likely_benign | 0.2576 | benign | -0.179 | Destabilizing | 0.742 | D | 0.494 | neutral | None | None | None | None | N |
| R/V | 0.5253 | ambiguous | 0.5145 | ambiguous | 0.171 | Stabilizing | 0.854 | D | 0.433 | neutral | None | None | None | None | N |
| R/W | 0.3244 | likely_benign | 0.3504 | ambiguous | -0.211 | Destabilizing | 0.996 | D | 0.395 | neutral | None | None | None | None | N |
| R/Y | 0.5749 | likely_pathogenic | 0.6012 | pathogenic | 0.155 | Stabilizing | 0.984 | D | 0.413 | 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.