Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20109 | 60550;60551;60552 | chr2:178591400;178591399;178591398 | chr2:179456127;179456126;179456125 |
| N2AB | 18468 | 55627;55628;55629 | chr2:178591400;178591399;178591398 | chr2:179456127;179456126;179456125 |
| N2A | 17541 | 52846;52847;52848 | chr2:178591400;178591399;178591398 | chr2:179456127;179456126;179456125 |
| N2B | 11044 | 33355;33356;33357 | chr2:178591400;178591399;178591398 | chr2:179456127;179456126;179456125 |
| Novex-1 | 11169 | 33730;33731;33732 | chr2:178591400;178591399;178591398 | chr2:179456127;179456126;179456125 |
| Novex-2 | 11236 | 33931;33932;33933 | chr2:178591400;178591399;178591398 | chr2:179456127;179456126;179456125 |
| 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 | None | None | 0.008 | N | 0.223 | 0.105 | 0.198526703765 | gnomAD-4.0.0 | 1.59397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43583E-05 | 0 |
| T/I | rs2050161903  |
None | 0.565 | N | 0.559 | 0.392 | 0.397691132334 | gnomAD-4.0.0 | 2.05409E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5208E-05 | None | 0 | 0 | 1.79975E-06 | 0 | 0 |
| T/N | rs2050161903 |
None | 0.901 | N | 0.55 | 0.384 | 0.389596023526 | 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/N | rs2050161903 |
None | 0.901 | N | 0.55 | 0.384 | 0.389596023526 | gnomAD-4.0.0 | 1.86043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54399E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.069 | likely_benign | 0.0683 | benign | -0.449 | Destabilizing | 0.008 | N | 0.223 | neutral | N | 0.482921306 | None | None | N |
| T/C | 0.3576 | ambiguous | 0.3635 | ambiguous | -0.344 | Destabilizing | 0.989 | D | 0.618 | neutral | None | None | None | None | N |
| T/D | 0.2911 | likely_benign | 0.3052 | benign | 0.131 | Stabilizing | 0.923 | D | 0.602 | neutral | None | None | None | None | N |
| T/E | 0.1969 | likely_benign | 0.21 | benign | 0.08 | Stabilizing | 0.775 | D | 0.562 | neutral | None | None | None | None | N |
| T/F | 0.1784 | likely_benign | 0.1931 | benign | -0.868 | Destabilizing | 0.961 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/G | 0.2113 | likely_benign | 0.2091 | benign | -0.613 | Destabilizing | 0.633 | D | 0.579 | neutral | None | None | None | None | N |
| T/H | 0.2034 | likely_benign | 0.2145 | benign | -0.861 | Destabilizing | 0.996 | D | 0.679 | prob.neutral | None | None | None | None | N |
| T/I | 0.0999 | likely_benign | 0.1014 | benign | -0.131 | Destabilizing | 0.565 | D | 0.559 | neutral | N | 0.498254084 | None | None | N |
| T/K | 0.1374 | likely_benign | 0.1463 | benign | -0.45 | Destabilizing | 0.775 | D | 0.567 | neutral | None | None | None | None | N |
| T/L | 0.0797 | likely_benign | 0.0808 | benign | -0.131 | Destabilizing | 0.633 | D | 0.543 | neutral | None | None | None | None | N |
| T/M | 0.0854 | likely_benign | 0.0842 | benign | -0.051 | Destabilizing | 0.989 | D | 0.639 | neutral | None | None | None | None | N |
| T/N | 0.1129 | likely_benign | 0.1115 | benign | -0.294 | Destabilizing | 0.901 | D | 0.55 | neutral | N | 0.493214428 | None | None | N |
| T/P | 0.3311 | likely_benign | 0.3357 | benign | -0.207 | Destabilizing | 0.949 | D | 0.636 | neutral | N | 0.518675744 | None | None | N |
| T/Q | 0.1754 | likely_benign | 0.1764 | benign | -0.458 | Destabilizing | 0.923 | D | 0.651 | neutral | None | None | None | None | N |
| T/R | 0.1364 | likely_benign | 0.1467 | benign | -0.19 | Destabilizing | 0.923 | D | 0.643 | neutral | None | None | None | None | N |
| T/S | 0.0941 | likely_benign | 0.0931 | benign | -0.506 | Destabilizing | 0.034 | N | 0.182 | neutral | N | 0.508217028 | None | None | N |
| T/V | 0.0809 | likely_benign | 0.0831 | benign | -0.207 | Destabilizing | 0.044 | N | 0.299 | neutral | None | None | None | None | N |
| T/W | 0.5539 | ambiguous | 0.5556 | ambiguous | -0.885 | Destabilizing | 0.996 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2362 | likely_benign | 0.246 | benign | -0.602 | Destabilizing | 0.987 | D | 0.7 | prob.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.