Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4949 | 15070;15071;15072 | chr2:178735601;178735600;178735599 | chr2:179600328;179600327;179600326 |
| N2AB | 4632 | 14119;14120;14121 | chr2:178735601;178735600;178735599 | chr2:179600328;179600327;179600326 |
| N2A | 3705 | 11338;11339;11340 | chr2:178735601;178735600;178735599 | chr2:179600328;179600327;179600326 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs370996177  |
-0.941 | 0.966 | D | 0.405 | 0.298 | 0.295974979623 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs370996177 |
-0.941 | 0.966 | D | 0.405 | 0.298 | 0.295974979623 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs370996177 |
-0.941 | 0.966 | D | 0.405 | 0.298 | 0.295974979623 | gnomAD-4.0.0 | 1.97189E-05 | None | None | None | None | N | None | 7.24078E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/V | None | None | 0.012 | N | 0.215 | 0.102 | 0.0806252709748 | gnomAD-4.0.0 | 6.84358E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99533E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1028 | likely_benign | 0.1249 | benign | -0.872 | Destabilizing | 0.525 | D | 0.448 | neutral | None | None | None | None | N |
| L/C | 0.3421 | ambiguous | 0.4015 | ambiguous | -0.61 | Destabilizing | 0.998 | D | 0.445 | neutral | None | None | None | None | N |
| L/D | 0.4053 | ambiguous | 0.4998 | ambiguous | -0.529 | Destabilizing | 0.974 | D | 0.487 | neutral | None | None | None | None | N |
| L/E | 0.2175 | likely_benign | 0.2641 | benign | -0.622 | Destabilizing | 0.842 | D | 0.481 | neutral | None | None | None | None | N |
| L/F | 0.0794 | likely_benign | 0.0887 | benign | -0.814 | Destabilizing | 0.966 | D | 0.405 | neutral | D | 0.53826581 | None | None | N |
| L/G | 0.2633 | likely_benign | 0.3359 | benign | -1.062 | Destabilizing | 0.974 | D | 0.461 | neutral | None | None | None | None | N |
| L/H | 0.1212 | likely_benign | 0.1458 | benign | -0.289 | Destabilizing | 0.998 | D | 0.473 | neutral | None | None | None | None | N |
| L/I | 0.0722 | likely_benign | 0.0761 | benign | -0.483 | Destabilizing | 0.728 | D | 0.467 | neutral | None | None | None | None | N |
| L/K | 0.1848 | likely_benign | 0.2132 | benign | -0.528 | Destabilizing | 0.029 | N | 0.198 | neutral | None | None | None | None | N |
| L/M | 0.0841 | likely_benign | 0.0907 | benign | -0.371 | Destabilizing | 0.966 | D | 0.445 | neutral | D | 0.556037112 | None | None | N |
| L/N | 0.1758 | likely_benign | 0.2188 | benign | -0.275 | Destabilizing | 0.974 | D | 0.488 | neutral | None | None | None | None | N |
| L/P | 0.351 | ambiguous | 0.4078 | ambiguous | -0.579 | Destabilizing | 0.991 | D | 0.489 | neutral | None | None | None | None | N |
| L/Q | 0.0937 | likely_benign | 0.1059 | benign | -0.558 | Destabilizing | 0.949 | D | 0.478 | neutral | None | None | None | None | N |
| L/R | 0.1362 | likely_benign | 0.1582 | benign | 0.133 | Stabilizing | 0.728 | D | 0.436 | neutral | None | None | None | None | N |
| L/S | 0.1006 | likely_benign | 0.123 | benign | -0.734 | Destabilizing | 0.801 | D | 0.471 | neutral | N | 0.440889725 | None | None | N |
| L/T | 0.1098 | likely_benign | 0.1293 | benign | -0.722 | Destabilizing | 0.842 | D | 0.417 | neutral | None | None | None | None | N |
| L/V | 0.065 | likely_benign | 0.0681 | benign | -0.579 | Destabilizing | 0.012 | N | 0.215 | neutral | N | 0.463299513 | None | None | N |
| L/W | 0.1586 | likely_benign | 0.1844 | benign | -0.806 | Destabilizing | 0.997 | D | 0.587 | neutral | D | 0.617063264 | None | None | N |
| L/Y | 0.195 | likely_benign | 0.2298 | benign | -0.576 | Destabilizing | 0.991 | D | 0.409 | 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.