Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18057 | 54394;54395;54396 | chr2:178605008;178605007;178605006 | chr2:179469735;179469734;179469733 |
| N2AB | 16416 | 49471;49472;49473 | chr2:178605008;178605007;178605006 | chr2:179469735;179469734;179469733 |
| N2A | 15489 | 46690;46691;46692 | chr2:178605008;178605007;178605006 | chr2:179469735;179469734;179469733 |
| N2B | 8992 | 27199;27200;27201 | chr2:178605008;178605007;178605006 | chr2:179469735;179469734;179469733 |
| Novex-1 | 9117 | 27574;27575;27576 | chr2:178605008;178605007;178605006 | chr2:179469735;179469734;179469733 |
| Novex-2 | 9184 | 27775;27776;27777 | chr2:178605008;178605007;178605006 | chr2:179469735;179469734;179469733 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | None | None | 0.989 | N | 0.54 | 0.347 | 0.326881540566 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| N/S | rs779769456  |
-0.387 | 0.022 | N | 0.155 | 0.151 | 0.167679373172 | gnomAD-2.1.1 | 4.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs779769456 |
-0.387 | 0.022 | N | 0.155 | 0.151 | 0.167679373172 | gnomAD-4.0.0 | 2.07167E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05945E-05 | None | 0 | 0 | 9.05797E-07 | 0 | 0 |
| N/T | None | None | 0.022 | N | 0.149 | 0.132 | 0.289474373501 | gnomAD-4.0.0 | 6.90558E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52972E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.269 | likely_benign | 0.2509 | benign | -0.705 | Destabilizing | 0.525 | D | 0.538 | neutral | None | None | None | None | N |
| N/C | 0.3355 | likely_benign | 0.3552 | ambiguous | 0.236 | Stabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| N/D | 0.2094 | likely_benign | 0.1958 | benign | -0.105 | Destabilizing | 0.801 | D | 0.46 | neutral | N | 0.437877082 | None | None | N |
| N/E | 0.4727 | ambiguous | 0.4398 | ambiguous | -0.073 | Destabilizing | 0.842 | D | 0.468 | neutral | None | None | None | None | N |
| N/F | 0.6332 | likely_pathogenic | 0.6043 | pathogenic | -0.714 | Destabilizing | 0.991 | D | 0.667 | neutral | None | None | None | None | N |
| N/G | 0.3711 | ambiguous | 0.3588 | ambiguous | -0.981 | Destabilizing | 0.525 | D | 0.457 | neutral | None | None | None | None | N |
| N/H | 0.1184 | likely_benign | 0.1196 | benign | -0.917 | Destabilizing | 0.989 | D | 0.54 | neutral | N | 0.467199911 | None | None | N |
| N/I | 0.3322 | likely_benign | 0.3007 | benign | -0.034 | Destabilizing | 0.934 | D | 0.683 | prob.neutral | N | 0.47195237 | None | None | N |
| N/K | 0.423 | ambiguous | 0.3818 | ambiguous | -0.167 | Destabilizing | 0.801 | D | 0.472 | neutral | N | 0.456710772 | None | None | N |
| N/L | 0.3492 | ambiguous | 0.32 | benign | -0.034 | Destabilizing | 0.842 | D | 0.636 | neutral | None | None | None | None | N |
| N/M | 0.3668 | ambiguous | 0.3398 | benign | 0.424 | Stabilizing | 0.998 | D | 0.63 | neutral | None | None | None | None | N |
| N/P | 0.5516 | ambiguous | 0.537 | ambiguous | -0.228 | Destabilizing | 0.974 | D | 0.683 | prob.neutral | None | None | None | None | N |
| N/Q | 0.3721 | ambiguous | 0.3527 | ambiguous | -0.622 | Destabilizing | 0.974 | D | 0.547 | neutral | None | None | None | None | N |
| N/R | 0.4472 | ambiguous | 0.4131 | ambiguous | -0.19 | Destabilizing | 0.842 | D | 0.547 | neutral | None | None | None | None | N |
| N/S | 0.0983 | likely_benign | 0.096 | benign | -0.54 | Destabilizing | 0.022 | N | 0.155 | neutral | N | 0.398510617 | None | None | N |
| N/T | 0.1314 | likely_benign | 0.1216 | benign | -0.332 | Destabilizing | 0.022 | N | 0.149 | neutral | N | 0.392835439 | None | None | N |
| N/V | 0.2815 | likely_benign | 0.2649 | benign | -0.228 | Destabilizing | 0.842 | D | 0.671 | neutral | None | None | None | None | N |
| N/W | 0.8078 | likely_pathogenic | 0.7978 | pathogenic | -0.553 | Destabilizing | 0.998 | D | 0.676 | prob.neutral | None | None | None | None | N |
| N/Y | 0.2277 | likely_benign | 0.2192 | benign | -0.354 | Destabilizing | 0.989 | D | 0.659 | neutral | N | 0.487652541 | 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.