Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31460 | 94603;94604;94605 | chr2:178547147;178547146;178547145 | chr2:179411874;179411873;179411872 |
| N2AB | 29819 | 89680;89681;89682 | chr2:178547147;178547146;178547145 | chr2:179411874;179411873;179411872 |
| N2A | 28892 | 86899;86900;86901 | chr2:178547147;178547146;178547145 | chr2:179411874;179411873;179411872 |
| N2B | 22395 | 67408;67409;67410 | chr2:178547147;178547146;178547145 | chr2:179411874;179411873;179411872 |
| Novex-1 | 22520 | 67783;67784;67785 | chr2:178547147;178547146;178547145 | chr2:179411874;179411873;179411872 |
| Novex-2 | 22587 | 67984;67985;67986 | chr2:178547147;178547146;178547145 | chr2:179411874;179411873;179411872 |
| 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/Q | None | None | 1.0 | N | 0.727 | 0.396 | 0.28798054836 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | I | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65667E-05 |
| K/R | None | None | 0.999 | N | 0.603 | 0.33 | 0.379366414296 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 | 0.3707 | ambiguous | 0.4604 | ambiguous | -0.003 | Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | I |
| K/C | 0.7674 | likely_pathogenic | 0.802 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| K/D | 0.5855 | likely_pathogenic | 0.6736 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| K/E | 0.2777 | likely_benign | 0.3882 | ambiguous | -0.267 | Destabilizing | 0.999 | D | 0.636 | neutral | N | 0.44098081 | None | None | I |
| K/F | 0.8738 | likely_pathogenic | 0.9207 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| K/G | 0.4953 | ambiguous | 0.5684 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| K/H | 0.3476 | ambiguous | 0.3888 | ambiguous | -0.205 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| K/I | 0.4957 | ambiguous | 0.6178 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.502450557 | None | None | I |
| K/L | 0.477 | ambiguous | 0.5883 | pathogenic | 0.281 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| K/M | 0.359 | ambiguous | 0.4581 | ambiguous | -0.151 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| K/N | 0.4702 | ambiguous | 0.5623 | ambiguous | -0.099 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.490812198 | None | None | I |
| K/P | 0.589 | likely_pathogenic | 0.6557 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| K/Q | 0.1753 | likely_benign | 0.212 | benign | -0.21 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.494911296 | None | None | I |
| K/R | 0.0799 | likely_benign | 0.0802 | benign | -0.12 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.447810782 | None | None | I |
| K/S | 0.425 | ambiguous | 0.5168 | ambiguous | -0.458 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | I |
| K/T | 0.1943 | likely_benign | 0.2596 | benign | -0.336 | Destabilizing | 1.0 | D | 0.666 | neutral | N | 0.451581806 | None | None | I |
| K/V | 0.4206 | ambiguous | 0.5214 | ambiguous | 0.211 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| K/W | 0.8389 | likely_pathogenic | 0.8739 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| K/Y | 0.7397 | likely_pathogenic | 0.8005 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.641 | 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.