Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24323 | 73192;73193;73194 | chr2:178573165;178573164;178573163 | chr2:179437892;179437891;179437890 |
| N2AB | 22682 | 68269;68270;68271 | chr2:178573165;178573164;178573163 | chr2:179437892;179437891;179437890 |
| N2A | 21755 | 65488;65489;65490 | chr2:178573165;178573164;178573163 | chr2:179437892;179437891;179437890 |
| N2B | 15258 | 45997;45998;45999 | chr2:178573165;178573164;178573163 | chr2:179437892;179437891;179437890 |
| Novex-1 | 15383 | 46372;46373;46374 | chr2:178573165;178573164;178573163 | chr2:179437892;179437891;179437890 |
| Novex-2 | 15450 | 46573;46574;46575 | chr2:178573165;178573164;178573163 | chr2:179437892;179437891;179437890 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs143241129  |
0.43 | 0.524 | N | 0.511 | 0.14 | None | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79861E-04 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs143241129 |
0.43 | 0.524 | N | 0.511 | 0.14 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 9.69744E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs143241129 |
0.43 | 0.524 | N | 0.511 | 0.14 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| K/E | rs143241129 |
0.43 | 0.524 | N | 0.511 | 0.14 | None | gnomAD-4.0.0 | 5.14642E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.83224E-03 | None | 0 | 0 | 0 | 0 | 1.60195E-05 |
| K/N | None | None | 0.915 | N | 0.437 | 0.124 | 0.130388298395 | gnomAD-4.0.0 | 1.59363E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86187E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3931 | ambiguous | 0.3758 | ambiguous | -0.192 | Destabilizing | 0.745 | D | 0.47 | neutral | None | None | None | None | I |
| K/C | 0.6658 | likely_pathogenic | 0.6357 | pathogenic | -0.264 | Destabilizing | 0.998 | D | 0.483 | neutral | None | None | None | None | I |
| K/D | 0.8473 | likely_pathogenic | 0.8567 | pathogenic | 0.137 | Stabilizing | 0.876 | D | 0.508 | neutral | None | None | None | None | I |
| K/E | 0.3067 | likely_benign | 0.2854 | benign | 0.15 | Stabilizing | 0.524 | D | 0.511 | neutral | N | 0.445050118 | None | None | I |
| K/F | 0.841 | likely_pathogenic | 0.8276 | pathogenic | -0.354 | Destabilizing | 0.961 | D | 0.45 | neutral | None | None | None | None | I |
| K/G | 0.6988 | likely_pathogenic | 0.6972 | pathogenic | -0.421 | Destabilizing | 0.935 | D | 0.413 | neutral | None | None | None | None | I |
| K/H | 0.4066 | ambiguous | 0.4074 | ambiguous | -0.776 | Destabilizing | 0.981 | D | 0.39 | neutral | None | None | None | None | I |
| K/I | 0.3385 | likely_benign | 0.3312 | benign | 0.34 | Stabilizing | 0.904 | D | 0.423 | neutral | N | 0.467964263 | None | None | I |
| K/L | 0.3324 | likely_benign | 0.3037 | benign | 0.34 | Stabilizing | 0.594 | D | 0.449 | neutral | None | None | None | None | I |
| K/M | 0.2645 | likely_benign | 0.2433 | benign | 0.314 | Stabilizing | 0.389 | N | 0.447 | neutral | None | None | None | None | I |
| K/N | 0.6848 | likely_pathogenic | 0.6775 | pathogenic | 0.172 | Stabilizing | 0.915 | D | 0.437 | neutral | N | 0.501596834 | None | None | I |
| K/P | 0.3098 | likely_benign | 0.3158 | benign | 0.192 | Stabilizing | 0.994 | D | 0.458 | neutral | None | None | None | None | I |
| K/Q | 0.1527 | likely_benign | 0.1376 | benign | -0.073 | Destabilizing | 0.172 | N | 0.169 | neutral | N | 0.447821064 | None | None | I |
| K/R | 0.0876 | likely_benign | 0.0873 | benign | -0.095 | Destabilizing | 0.842 | D | 0.477 | neutral | N | 0.441124378 | None | None | I |
| K/S | 0.5661 | likely_pathogenic | 0.556 | ambiguous | -0.429 | Destabilizing | 0.876 | D | 0.405 | neutral | None | None | None | None | I |
| K/T | 0.2264 | likely_benign | 0.2227 | benign | -0.257 | Destabilizing | 0.915 | D | 0.505 | neutral | N | 0.427733793 | None | None | I |
| K/V | 0.3108 | likely_benign | 0.2983 | benign | 0.192 | Stabilizing | 0.78 | D | 0.339 | neutral | None | None | None | None | I |
| K/W | 0.875 | likely_pathogenic | 0.8726 | pathogenic | -0.27 | Destabilizing | 0.998 | D | 0.551 | neutral | None | None | None | None | I |
| K/Y | 0.7544 | likely_pathogenic | 0.7546 | pathogenic | 0.071 | Stabilizing | 0.994 | D | 0.477 | 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.