Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17807 | 53644;53645;53646 | chr2:178607183;178607182;178607181 | chr2:179471910;179471909;179471908 |
| N2AB | 16166 | 48721;48722;48723 | chr2:178607183;178607182;178607181 | chr2:179471910;179471909;179471908 |
| N2A | 15239 | 45940;45941;45942 | chr2:178607183;178607182;178607181 | chr2:179471910;179471909;179471908 |
| N2B | 8742 | 26449;26450;26451 | chr2:178607183;178607182;178607181 | chr2:179471910;179471909;179471908 |
| Novex-1 | 8867 | 26824;26825;26826 | chr2:178607183;178607182;178607181 | chr2:179471910;179471909;179471908 |
| Novex-2 | 8934 | 27025;27026;27027 | chr2:178607183;178607182;178607181 | chr2:179471910;179471909;179471908 |
| 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/M | None | None | 1.0 | N | 0.657 | 0.516 | 0.417208245017 | gnomAD-4.0.0 | 2.0535E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6994E-06 | 0 | 0 |
| K/R | None | None | 0.999 | N | 0.632 | 0.26 | 0.257786959452 | gnomAD-4.0.0 | 6.845E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99798E-07 | 0 | 0 |
| K/T | rs747883893  |
-0.394 | 1.0 | N | 0.63 | 0.533 | 0.389596023526 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs747883893 |
-0.394 | 1.0 | N | 0.63 | 0.533 | 0.389596023526 | gnomAD-4.0.0 | 6.845E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15974E-05 | 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 | 0.6355 | likely_pathogenic | 0.5711 | pathogenic | 0.08 | Stabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | I |
| K/C | 0.8836 | likely_pathogenic | 0.8855 | pathogenic | -0.193 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
| K/D | 0.8174 | likely_pathogenic | 0.7971 | pathogenic | -0.19 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| K/E | 0.6119 | likely_pathogenic | 0.5644 | pathogenic | -0.203 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | N | 0.473130514 | None | None | I |
| K/F | 0.951 | likely_pathogenic | 0.946 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| K/G | 0.7133 | likely_pathogenic | 0.6556 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| K/H | 0.5576 | ambiguous | 0.5295 | ambiguous | -0.231 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| K/I | 0.7793 | likely_pathogenic | 0.7499 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| K/L | 0.6793 | likely_pathogenic | 0.6429 | pathogenic | 0.383 | Stabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| K/M | 0.6101 | likely_pathogenic | 0.5673 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.657 | neutral | N | 0.50924603 | None | None | I |
| K/N | 0.6941 | likely_pathogenic | 0.6453 | pathogenic | 0.274 | Stabilizing | 1.0 | D | 0.669 | neutral | N | 0.492598922 | None | None | I |
| K/P | 0.9357 | likely_pathogenic | 0.9349 | pathogenic | 0.307 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| K/Q | 0.3387 | likely_benign | 0.2854 | benign | 0.099 | Stabilizing | 1.0 | D | 0.659 | neutral | N | 0.517556082 | None | None | I |
| K/R | 0.1103 | likely_benign | 0.1034 | benign | 0.036 | Stabilizing | 0.999 | D | 0.632 | neutral | N | 0.49223635 | None | None | I |
| K/S | 0.6935 | likely_pathogenic | 0.631 | pathogenic | -0.108 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | I |
| K/T | 0.4436 | ambiguous | 0.3803 | ambiguous | -0.001 | Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.479307125 | None | None | I |
| K/V | 0.6859 | likely_pathogenic | 0.6483 | pathogenic | 0.307 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| K/W | 0.9494 | likely_pathogenic | 0.9454 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| K/Y | 0.8837 | likely_pathogenic | 0.8785 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.669 | 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.