Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20415 | 61468;61469;61470 | chr2:178590482;178590481;178590480 | chr2:179455209;179455208;179455207 |
| N2AB | 18774 | 56545;56546;56547 | chr2:178590482;178590481;178590480 | chr2:179455209;179455208;179455207 |
| N2A | 17847 | 53764;53765;53766 | chr2:178590482;178590481;178590480 | chr2:179455209;179455208;179455207 |
| N2B | 11350 | 34273;34274;34275 | chr2:178590482;178590481;178590480 | chr2:179455209;179455208;179455207 |
| Novex-1 | 11475 | 34648;34649;34650 | chr2:178590482;178590481;178590480 | chr2:179455209;179455208;179455207 |
| Novex-2 | 11542 | 34849;34850;34851 | chr2:178590482;178590481;178590480 | chr2:179455209;179455208;179455207 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1376276368  |
-0.327 | None | N | 0.085 | 0.106 | 0.136095386433 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs760457056 |
-0.085 | 0.029 | N | 0.357 | 0.179 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.9E-06 | 0 |
| T/I | rs760457056 |
-0.085 | 0.029 | N | 0.357 | 0.179 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs760457056 |
-0.085 | 0.029 | N | 0.357 | 0.179 | None | gnomAD-4.0.0 | 1.05402E-05 | None | None | None | None | N | None | 1.33658E-05 | 0 | None | 0 | 2.23314E-05 | None | 0 | 0 | 9.32667E-06 | 4.39483E-05 | 0 |
| T/K | rs760457056 |
-0.391 | None | N | 0.2 | 0.075 | 0.177238962908 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/K | rs760457056 |
-0.391 | None | N | 0.2 | 0.075 | 0.177238962908 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/K | rs760457056 |
-0.391 | None | N | 0.2 | 0.075 | 0.177238962908 | gnomAD-4.0.0 | 8.06016E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01745E-05 | 0 | 1.60169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0828 | likely_benign | 0.0947 | benign | -0.343 | Destabilizing | None | N | 0.085 | neutral | N | 0.471727792 | None | None | N |
| T/C | 0.3292 | likely_benign | 0.4035 | ambiguous | -0.24 | Destabilizing | 0.864 | D | 0.306 | neutral | None | None | None | None | N |
| T/D | 0.2511 | likely_benign | 0.2467 | benign | 0.095 | Stabilizing | 0.072 | N | 0.301 | neutral | None | None | None | None | N |
| T/E | 0.2041 | likely_benign | 0.201 | benign | 0.011 | Stabilizing | 0.038 | N | 0.277 | neutral | None | None | None | None | N |
| T/F | 0.2364 | likely_benign | 0.2798 | benign | -0.853 | Destabilizing | 0.214 | N | 0.415 | neutral | None | None | None | None | N |
| T/G | 0.172 | likely_benign | 0.1959 | benign | -0.461 | Destabilizing | 0.016 | N | 0.264 | neutral | None | None | None | None | N |
| T/H | 0.2257 | likely_benign | 0.2788 | benign | -0.761 | Destabilizing | 0.356 | N | 0.379 | neutral | None | None | None | None | N |
| T/I | 0.1934 | likely_benign | 0.229 | benign | -0.151 | Destabilizing | 0.029 | N | 0.357 | neutral | N | 0.488044689 | None | None | N |
| T/K | 0.1706 | likely_benign | 0.1906 | benign | -0.359 | Destabilizing | None | N | 0.2 | neutral | N | 0.474189307 | None | None | N |
| T/L | 0.0997 | likely_benign | 0.1167 | benign | -0.151 | Destabilizing | 0.016 | N | 0.307 | neutral | None | None | None | None | N |
| T/M | 0.0925 | likely_benign | 0.1129 | benign | 0.051 | Stabilizing | 0.007 | N | 0.283 | neutral | None | None | None | None | N |
| T/N | 0.1043 | likely_benign | 0.1157 | benign | -0.111 | Destabilizing | 0.072 | N | 0.261 | neutral | None | None | None | None | N |
| T/P | 0.2793 | likely_benign | 0.2985 | benign | -0.187 | Destabilizing | 0.106 | N | 0.39 | neutral | N | 0.518828305 | None | None | N |
| T/Q | 0.1738 | likely_benign | 0.1969 | benign | -0.371 | Destabilizing | 0.12 | N | 0.379 | neutral | None | None | None | None | N |
| T/R | 0.1636 | likely_benign | 0.1957 | benign | -0.062 | Destabilizing | 0.029 | N | 0.353 | neutral | N | 0.493988576 | None | None | N |
| T/S | 0.0858 | likely_benign | 0.098 | benign | -0.317 | Destabilizing | None | N | 0.095 | neutral | N | 0.396459242 | None | None | N |
| T/V | 0.1423 | likely_benign | 0.1632 | benign | -0.187 | Destabilizing | 0.016 | N | 0.241 | neutral | None | None | None | None | N |
| T/W | 0.5194 | ambiguous | 0.5723 | pathogenic | -0.855 | Destabilizing | 0.864 | D | 0.41 | neutral | None | None | None | None | N |
| T/Y | 0.252 | likely_benign | 0.2953 | benign | -0.574 | Destabilizing | 0.628 | D | 0.407 | 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.