Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3080 | 9463;9464;9465 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
| N2AB | 3080 | 9463;9464;9465 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
| N2A | 3080 | 9463;9464;9465 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
| N2B | 3034 | 9325;9326;9327 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
| Novex-1 | 3034 | 9325;9326;9327 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
| Novex-2 | 3034 | 9325;9326;9327 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
| Novex-3 | 3080 | 9463;9464;9465 | chr2:178768081;178768080;178768079 | chr2:179632808;179632807;179632806 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | None | None | 0.999 | D | 0.428 | 0.472 | 0.272205846399 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-06 | 0 | 0 |
| E/G | rs1305956743  |
None | 1.0 | D | 0.756 | 0.685 | 0.621290578936 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/G | rs1305956743 |
None | 1.0 | D | 0.756 | 0.685 | 0.621290578936 | gnomAD-4.0.0 | 6.57039E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| E/Q | None | None | 1.0 | D | 0.603 | 0.326 | 0.369867359543 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7602 | likely_pathogenic | 0.747 | pathogenic | -1.041 | Destabilizing | 0.999 | D | 0.674 | neutral | D | 0.575500142 | None | None | N |
| E/C | 0.9926 | likely_pathogenic | 0.9937 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/D | 0.8614 | likely_pathogenic | 0.8621 | pathogenic | -1.432 | Destabilizing | 0.999 | D | 0.428 | neutral | D | 0.597156617 | None | None | N |
| E/F | 0.9886 | likely_pathogenic | 0.9897 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/G | 0.939 | likely_pathogenic | 0.9332 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.572832534 | None | None | N |
| E/H | 0.9755 | likely_pathogenic | 0.9767 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| E/I | 0.8589 | likely_pathogenic | 0.8752 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/K | 0.8955 | likely_pathogenic | 0.8819 | pathogenic | -1.167 | Destabilizing | 0.999 | D | 0.543 | neutral | N | 0.50358093 | None | None | N |
| E/L | 0.9426 | likely_pathogenic | 0.9427 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/M | 0.9104 | likely_pathogenic | 0.914 | pathogenic | 0.629 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| E/N | 0.962 | likely_pathogenic | 0.9639 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/P | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| E/Q | 0.669 | likely_pathogenic | 0.6645 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.603 | neutral | D | 0.539288192 | None | None | N |
| E/R | 0.9342 | likely_pathogenic | 0.9235 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/S | 0.8615 | likely_pathogenic | 0.8525 | pathogenic | -1.995 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| E/T | 0.8098 | likely_pathogenic | 0.8039 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/V | 0.7039 | likely_pathogenic | 0.7199 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.567178943 | None | None | N |
| E/W | 0.9977 | likely_pathogenic | 0.9976 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| E/Y | 0.9866 | likely_pathogenic | 0.9869 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.771 | deleterious | 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.