Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17753 | 53482;53483;53484 | chr2:178607431;178607430;178607429 | chr2:179472158;179472157;179472156 |
| N2AB | 16112 | 48559;48560;48561 | chr2:178607431;178607430;178607429 | chr2:179472158;179472157;179472156 |
| N2A | 15185 | 45778;45779;45780 | chr2:178607431;178607430;178607429 | chr2:179472158;179472157;179472156 |
| N2B | 8688 | 26287;26288;26289 | chr2:178607431;178607430;178607429 | chr2:179472158;179472157;179472156 |
| Novex-1 | 8813 | 26662;26663;26664 | chr2:178607431;178607430;178607429 | chr2:179472158;179472157;179472156 |
| Novex-2 | 8880 | 26863;26864;26865 | chr2:178607431;178607430;178607429 | chr2:179472158;179472157;179472156 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs1456581218  |
0.4 | 1.0 | N | 0.747 | 0.435 | 0.234412748748 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | I | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs1456581218 |
0.4 | 1.0 | N | 0.747 | 0.435 | 0.234412748748 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1456581218 |
0.4 | 1.0 | N | 0.747 | 0.435 | 0.234412748748 | gnomAD-4.0.0 | 6.57782E-06 | None | None | None | None | I | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | None | None | 0.999 | D | 0.617 | 0.352 | 0.412849826617 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5435 | ambiguous | 0.43 | ambiguous | -0.054 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | I |
| K/C | 0.8228 | likely_pathogenic | 0.7439 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| K/D | 0.883 | likely_pathogenic | 0.8356 | pathogenic | 0.036 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| K/E | 0.5615 | ambiguous | 0.433 | ambiguous | 0.041 | Stabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.509969254 | None | None | I |
| K/F | 0.9522 | likely_pathogenic | 0.9084 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| K/G | 0.7846 | likely_pathogenic | 0.6843 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | I |
| K/H | 0.5714 | likely_pathogenic | 0.4634 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| K/I | 0.649 | likely_pathogenic | 0.5348 | ambiguous | 0.287 | Stabilizing | 1.0 | D | 0.662 | neutral | N | 0.494463871 | None | None | I |
| K/L | 0.724 | likely_pathogenic | 0.6163 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | I |
| K/M | 0.5166 | ambiguous | 0.4099 | ambiguous | -0.026 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | I |
| K/N | 0.7761 | likely_pathogenic | 0.6922 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.747 | deleterious | N | 0.489010919 | None | None | I |
| K/P | 0.9777 | likely_pathogenic | 0.9728 | pathogenic | 0.199 | Stabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| K/Q | 0.2633 | likely_benign | 0.2036 | benign | -0.053 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.486186536 | None | None | I |
| K/R | 0.111 | likely_benign | 0.0975 | benign | -0.073 | Destabilizing | 0.999 | D | 0.617 | neutral | D | 0.523399911 | None | None | I |
| K/S | 0.6886 | likely_pathogenic | 0.5742 | pathogenic | -0.381 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | I |
| K/T | 0.3612 | ambiguous | 0.2717 | benign | -0.233 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.518282093 | None | None | I |
| K/V | 0.5212 | ambiguous | 0.3978 | ambiguous | 0.199 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| K/W | 0.9547 | likely_pathogenic | 0.9274 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| K/Y | 0.8796 | likely_pathogenic | 0.8064 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
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.