Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29748 | 89467;89468;89469 | chr2:178553763;178553762;178553761 | chr2:179418490;179418489;179418488 |
| N2AB | 28107 | 84544;84545;84546 | chr2:178553763;178553762;178553761 | chr2:179418490;179418489;179418488 |
| N2A | 27180 | 81763;81764;81765 | chr2:178553763;178553762;178553761 | chr2:179418490;179418489;179418488 |
| N2B | 20683 | 62272;62273;62274 | chr2:178553763;178553762;178553761 | chr2:179418490;179418489;179418488 |
| Novex-1 | 20808 | 62647;62648;62649 | chr2:178553763;178553762;178553761 | chr2:179418490;179418489;179418488 |
| Novex-2 | 20875 | 62848;62849;62850 | chr2:178553763;178553762;178553761 | chr2:179418490;179418489;179418488 |
| 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 | None | None | 1.0 | N | 0.725 | 0.225 | 0.154104182512 | gnomAD-4.0.0 | 4.11903E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.4118E-06 | 0 | 0 |
| K/T | rs2154152255  |
None | 1.0 | N | 0.699 | 0.377 | 0.394384168047 | 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 |
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 | 0.5275 | ambiguous | 0.5017 | ambiguous | -0.109 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| K/C | 0.8351 | likely_pathogenic | 0.8312 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| K/D | 0.8254 | likely_pathogenic | 0.8088 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/E | 0.4706 | ambiguous | 0.4308 | ambiguous | 0.01 | Stabilizing | 0.999 | D | 0.591 | neutral | N | 0.466433828 | None | None | N |
| K/F | 0.9339 | likely_pathogenic | 0.9286 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| K/G | 0.6622 | likely_pathogenic | 0.6564 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| K/H | 0.4872 | ambiguous | 0.4744 | ambiguous | -0.766 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| K/I | 0.684 | likely_pathogenic | 0.6562 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/L | 0.6349 | likely_pathogenic | 0.6119 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| K/M | 0.515 | ambiguous | 0.4939 | ambiguous | 0.413 | Stabilizing | 1.0 | D | 0.603 | neutral | N | 0.492208518 | None | None | N |
| K/N | 0.681 | likely_pathogenic | 0.6422 | pathogenic | 0.232 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.501394551 | None | None | N |
| K/P | 0.822 | likely_pathogenic | 0.8113 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/Q | 0.2527 | likely_benign | 0.2325 | benign | -0.021 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.515555927 | None | None | N |
| K/R | 0.0864 | likely_benign | 0.0833 | benign | -0.037 | Destabilizing | 0.999 | D | 0.536 | neutral | N | 0.47030364 | None | None | N |
| K/S | 0.6103 | likely_pathogenic | 0.5819 | pathogenic | -0.298 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| K/T | 0.4227 | ambiguous | 0.3874 | ambiguous | -0.147 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.517132008 | None | None | N |
| K/V | 0.578 | likely_pathogenic | 0.5561 | ambiguous | 0.226 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| K/W | 0.9329 | likely_pathogenic | 0.9326 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/Y | 0.819 | likely_pathogenic | 0.8168 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.668 | 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.