Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16564 | 49915;49916;49917 | chr2:178613031;178613030;178613029 | chr2:179477758;179477757;179477756 |
| N2AB | 14923 | 44992;44993;44994 | chr2:178613031;178613030;178613029 | chr2:179477758;179477757;179477756 |
| N2A | 13996 | 42211;42212;42213 | chr2:178613031;178613030;178613029 | chr2:179477758;179477757;179477756 |
| N2B | 7499 | 22720;22721;22722 | chr2:178613031;178613030;178613029 | chr2:179477758;179477757;179477756 |
| Novex-1 | 7624 | 23095;23096;23097 | chr2:178613031;178613030;178613029 | chr2:179477758;179477757;179477756 |
| Novex-2 | 7691 | 23296;23297;23298 | chr2:178613031;178613030;178613029 | chr2:179477758;179477757;179477756 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs759568659  |
-1.735 | 0.984 | N | 0.527 | 0.156 | 0.235664433957 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/D | rs759568659 |
-1.735 | 0.984 | N | 0.527 | 0.156 | 0.235664433957 | gnomAD-4.0.0 | 1.59344E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.862E-06 | 0 | 0 |
| G/V | rs759568659 |
-0.372 | 0.811 | N | 0.587 | 0.194 | 0.347438807231 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs759568659 |
-0.372 | 0.811 | N | 0.587 | 0.194 | 0.347438807231 | gnomAD-4.0.0 | 1.59344E-06 | None | None | None | None | N | None | 0 | 2.28927E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1543 | likely_benign | 0.12 | benign | -0.795 | Destabilizing | 0.011 | N | 0.245 | neutral | N | 0.453880063 | None | None | N |
| G/C | 0.3416 | ambiguous | 0.2742 | benign | -1.083 | Destabilizing | 0.999 | D | 0.626 | neutral | D | 0.584518004 | None | None | N |
| G/D | 0.3853 | ambiguous | 0.3656 | ambiguous | -1.545 | Destabilizing | 0.984 | D | 0.527 | neutral | N | 0.474797003 | None | None | N |
| G/E | 0.3657 | ambiguous | 0.334 | benign | -1.642 | Destabilizing | 0.976 | D | 0.547 | neutral | None | None | None | None | N |
| G/F | 0.7628 | likely_pathogenic | 0.6954 | pathogenic | -1.274 | Destabilizing | 0.952 | D | 0.645 | neutral | None | None | None | None | N |
| G/H | 0.619 | likely_pathogenic | 0.5652 | pathogenic | -1.296 | Destabilizing | 0.997 | D | 0.57 | neutral | None | None | None | None | N |
| G/I | 0.5693 | likely_pathogenic | 0.4941 | ambiguous | -0.557 | Destabilizing | 0.976 | D | 0.645 | neutral | None | None | None | None | N |
| G/K | 0.6594 | likely_pathogenic | 0.6471 | pathogenic | -1.39 | Destabilizing | 0.976 | D | 0.552 | neutral | None | None | None | None | N |
| G/L | 0.5227 | ambiguous | 0.4254 | ambiguous | -0.557 | Destabilizing | 0.919 | D | 0.586 | neutral | None | None | None | None | N |
| G/M | 0.6247 | likely_pathogenic | 0.5424 | ambiguous | -0.39 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| G/N | 0.4005 | ambiguous | 0.3466 | ambiguous | -1.054 | Destabilizing | 0.988 | D | 0.53 | neutral | None | None | None | None | N |
| G/P | 0.9653 | likely_pathogenic | 0.9628 | pathogenic | -0.598 | Destabilizing | 0.988 | D | 0.588 | neutral | None | None | None | None | N |
| G/Q | 0.4862 | ambiguous | 0.4463 | ambiguous | -1.328 | Destabilizing | 0.988 | D | 0.579 | neutral | None | None | None | None | N |
| G/R | 0.5197 | ambiguous | 0.5065 | ambiguous | -0.949 | Destabilizing | 0.984 | D | 0.585 | neutral | N | 0.468129012 | None | None | N |
| G/S | 0.1045 | likely_benign | 0.0854 | benign | -1.238 | Destabilizing | 0.811 | D | 0.501 | neutral | N | 0.445637491 | None | None | N |
| G/T | 0.1736 | likely_benign | 0.1435 | benign | -1.27 | Destabilizing | 0.976 | D | 0.553 | neutral | None | None | None | None | N |
| G/V | 0.3936 | ambiguous | 0.3212 | benign | -0.598 | Destabilizing | 0.811 | D | 0.587 | neutral | N | 0.485835702 | None | None | N |
| G/W | 0.6744 | likely_pathogenic | 0.6396 | pathogenic | -1.545 | Destabilizing | 0.999 | D | 0.57 | neutral | None | None | None | None | N |
| G/Y | 0.6983 | likely_pathogenic | 0.6329 | pathogenic | -1.182 | Destabilizing | 0.261 | N | 0.525 | 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.