Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26147 | 78664;78665;78666 | chr2:178567693;178567692;178567691 | chr2:179432420;179432419;179432418 |
| N2AB | 24506 | 73741;73742;73743 | chr2:178567693;178567692;178567691 | chr2:179432420;179432419;179432418 |
| N2A | 23579 | 70960;70961;70962 | chr2:178567693;178567692;178567691 | chr2:179432420;179432419;179432418 |
| N2B | 17082 | 51469;51470;51471 | chr2:178567693;178567692;178567691 | chr2:179432420;179432419;179432418 |
| Novex-1 | 17207 | 51844;51845;51846 | chr2:178567693;178567692;178567691 | chr2:179432420;179432419;179432418 |
| Novex-2 | 17274 | 52045;52046;52047 | chr2:178567693;178567692;178567691 | chr2:179432420;179432419;179432418 |
| 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/E | rs774587761  |
0.316 | 0.001 | N | 0.173 | 0.103 | 0.149567049428 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.6387E-04 | None | 0 | 0 | 0 |
| Q/E | rs774587761 |
0.316 | 0.001 | N | 0.173 | 0.103 | 0.149567049428 | gnomAD-4.0.0 | 6.85138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.0445E-04 | 1.65887E-05 |
| Q/H | rs749374532 |
-0.435 | 0.007 | N | 0.309 | 0.089 | 0.12205267543 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| Q/H | rs749374532 |
-0.435 | 0.007 | N | 0.309 | 0.089 | 0.12205267543 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/H | rs749374532 |
-0.435 | 0.007 | N | 0.309 | 0.089 | 0.12205267543 | gnomAD-4.0.0 | 6.20374E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48479E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2463 | likely_benign | 0.258 | benign | -0.661 | Destabilizing | 0.543 | D | 0.385 | neutral | None | None | None | None | N |
| Q/C | 0.5169 | ambiguous | 0.5149 | ambiguous | -0.071 | Destabilizing | 0.996 | D | 0.595 | neutral | None | None | None | None | N |
| Q/D | 0.5656 | likely_pathogenic | 0.5854 | pathogenic | -0.186 | Destabilizing | 0.373 | N | 0.359 | neutral | None | None | None | None | N |
| Q/E | 0.0941 | likely_benign | 0.0951 | benign | -0.075 | Destabilizing | 0.001 | N | 0.173 | neutral | N | 0.398422112 | None | None | N |
| Q/F | 0.6531 | likely_pathogenic | 0.6561 | pathogenic | -0.283 | Destabilizing | 0.953 | D | 0.576 | neutral | None | None | None | None | N |
| Q/G | 0.4299 | ambiguous | 0.4534 | ambiguous | -1.02 | Destabilizing | 0.742 | D | 0.467 | neutral | None | None | None | None | N |
| Q/H | 0.1895 | likely_benign | 0.2056 | benign | -0.622 | Destabilizing | 0.007 | N | 0.309 | neutral | N | 0.451429877 | None | None | N |
| Q/I | 0.3634 | ambiguous | 0.357 | ambiguous | 0.257 | Stabilizing | 0.953 | D | 0.588 | neutral | None | None | None | None | N |
| Q/K | 0.1171 | likely_benign | 0.1213 | benign | -0.203 | Destabilizing | 0.309 | N | 0.391 | neutral | N | 0.473727947 | None | None | N |
| Q/L | 0.1885 | likely_benign | 0.2041 | benign | 0.257 | Stabilizing | 0.684 | D | 0.493 | neutral | D | 0.52361805 | None | None | N |
| Q/M | 0.3387 | likely_benign | 0.3384 | benign | 0.505 | Stabilizing | 0.984 | D | 0.494 | neutral | None | None | None | None | N |
| Q/N | 0.2994 | likely_benign | 0.3087 | benign | -0.792 | Destabilizing | 0.742 | D | 0.338 | neutral | None | None | None | None | N |
| Q/P | 0.9248 | likely_pathogenic | 0.9393 | pathogenic | -0.018 | Destabilizing | 0.815 | D | 0.527 | neutral | N | 0.498837035 | None | None | N |
| Q/R | 0.1195 | likely_benign | 0.126 | benign | -0.108 | Destabilizing | 0.684 | D | 0.333 | neutral | N | 0.461913443 | None | None | N |
| Q/S | 0.2392 | likely_benign | 0.2472 | benign | -0.954 | Destabilizing | 0.543 | D | 0.36 | neutral | None | None | None | None | N |
| Q/T | 0.1695 | likely_benign | 0.1663 | benign | -0.64 | Destabilizing | 0.742 | D | 0.407 | neutral | None | None | None | None | N |
| Q/V | 0.2304 | likely_benign | 0.2308 | benign | -0.018 | Destabilizing | 0.854 | D | 0.539 | neutral | None | None | None | None | N |
| Q/W | 0.6109 | likely_pathogenic | 0.6215 | pathogenic | -0.125 | Destabilizing | 0.996 | D | 0.597 | neutral | None | None | None | None | N |
| Q/Y | 0.4134 | ambiguous | 0.431 | ambiguous | 0.09 | Stabilizing | 0.835 | D | 0.567 | 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.