Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34374 | 103345;103346;103347 | chr2:178533495;178533494;178533493 | chr2:179398222;179398221;179398220 |
| N2AB | 32733 | 98422;98423;98424 | chr2:178533495;178533494;178533493 | chr2:179398222;179398221;179398220 |
| N2A | 31806 | 95641;95642;95643 | chr2:178533495;178533494;178533493 | chr2:179398222;179398221;179398220 |
| N2B | 25309 | 76150;76151;76152 | chr2:178533495;178533494;178533493 | chr2:179398222;179398221;179398220 |
| Novex-1 | 25434 | 76525;76526;76527 | chr2:178533495;178533494;178533493 | chr2:179398222;179398221;179398220 |
| Novex-2 | 25501 | 76726;76727;76728 | chr2:178533495;178533494;178533493 | chr2:179398222;179398221;179398220 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs368493317  |
-1.166 | 0.995 | N | 0.554 | 0.511 | 0.81253044437 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/F | rs368493317 |
-1.166 | 0.995 | N | 0.554 | 0.511 | 0.81253044437 | 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 |
| C/F | rs368493317 |
-1.166 | 0.995 | N | 0.554 | 0.511 | 0.81253044437 | gnomAD-4.0.0 | 1.61174E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.03507E-05 | 0 | 3.20318E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7891 | likely_pathogenic | 0.785 | pathogenic | -1.229 | Destabilizing | 0.825 | D | 0.449 | neutral | None | None | None | None | N |
| C/D | 0.9941 | likely_pathogenic | 0.9928 | pathogenic | -1.145 | Destabilizing | 0.988 | D | 0.601 | neutral | None | None | None | None | N |
| C/E | 0.9955 | likely_pathogenic | 0.9954 | pathogenic | -1.05 | Destabilizing | 0.976 | D | 0.605 | neutral | None | None | None | None | N |
| C/F | 0.8465 | likely_pathogenic | 0.8404 | pathogenic | -0.878 | Destabilizing | 0.995 | D | 0.554 | neutral | N | 0.467487913 | None | None | N |
| C/G | 0.7376 | likely_pathogenic | 0.7026 | pathogenic | -1.507 | Destabilizing | 0.984 | D | 0.593 | neutral | N | 0.452307817 | None | None | N |
| C/H | 0.9856 | likely_pathogenic | 0.9843 | pathogenic | -1.865 | Destabilizing | 0.997 | D | 0.594 | neutral | None | None | None | None | N |
| C/I | 0.7445 | likely_pathogenic | 0.7701 | pathogenic | -0.536 | Destabilizing | 0.988 | D | 0.534 | neutral | None | None | None | None | N |
| C/K | 0.9952 | likely_pathogenic | 0.9949 | pathogenic | -0.938 | Destabilizing | 0.851 | D | 0.577 | neutral | None | None | None | None | N |
| C/L | 0.855 | likely_pathogenic | 0.8599 | pathogenic | -0.536 | Destabilizing | 0.919 | D | 0.465 | neutral | None | None | None | None | N |
| C/M | 0.9056 | likely_pathogenic | 0.9184 | pathogenic | 0.207 | Stabilizing | 0.999 | D | 0.489 | neutral | None | None | None | None | N |
| C/N | 0.9719 | likely_pathogenic | 0.9696 | pathogenic | -1.005 | Destabilizing | 0.976 | D | 0.605 | neutral | None | None | None | None | N |
| C/P | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -0.741 | Destabilizing | 0.996 | D | 0.606 | neutral | None | None | None | None | N |
| C/Q | 0.9871 | likely_pathogenic | 0.9871 | pathogenic | -0.98 | Destabilizing | 0.976 | D | 0.606 | neutral | None | None | None | None | N |
| C/R | 0.9736 | likely_pathogenic | 0.9711 | pathogenic | -0.893 | Destabilizing | 0.059 | N | 0.381 | neutral | N | 0.455809482 | None | None | N |
| C/S | 0.8209 | likely_pathogenic | 0.812 | pathogenic | -1.33 | Destabilizing | 0.896 | D | 0.517 | neutral | N | 0.4519611 | None | None | N |
| C/T | 0.8015 | likely_pathogenic | 0.8143 | pathogenic | -1.083 | Destabilizing | 0.959 | D | 0.499 | neutral | None | None | None | None | N |
| C/V | 0.5646 | likely_pathogenic | 0.6006 | pathogenic | -0.741 | Destabilizing | 0.959 | D | 0.499 | neutral | None | None | None | None | N |
| C/W | 0.9825 | likely_pathogenic | 0.9808 | pathogenic | -1.074 | Destabilizing | 0.999 | D | 0.568 | neutral | D | 0.527266935 | None | None | N |
| C/Y | 0.9414 | likely_pathogenic | 0.937 | pathogenic | -0.896 | Destabilizing | 0.995 | D | 0.558 | neutral | N | 0.497290745 | 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.