Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34169 | 102730;102731;102732 | chr2:178534110;178534109;178534108 | chr2:179398837;179398836;179398835 |
| N2AB | 32528 | 97807;97808;97809 | chr2:178534110;178534109;178534108 | chr2:179398837;179398836;179398835 |
| N2A | 31601 | 95026;95027;95028 | chr2:178534110;178534109;178534108 | chr2:179398837;179398836;179398835 |
| N2B | 25104 | 75535;75536;75537 | chr2:178534110;178534109;178534108 | chr2:179398837;179398836;179398835 |
| Novex-1 | 25229 | 75910;75911;75912 | chr2:178534110;178534109;178534108 | chr2:179398837;179398836;179398835 |
| Novex-2 | 25296 | 76111;76112;76113 | chr2:178534110;178534109;178534108 | chr2:179398837;179398836;179398835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1410488429  |
0.401 | 0.994 | N | 0.569 | 0.495 | 0.614800550379 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/I | rs1410488429 |
0.401 | 0.994 | N | 0.569 | 0.495 | 0.614800550379 | gnomAD-4.0.0 | 4.77291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7154E-06 | 0 | 3.02352E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2366 | likely_benign | 0.2133 | benign | -0.896 | Destabilizing | 0.122 | N | 0.219 | neutral | D | 0.531019317 | None | None | N |
| T/C | 0.7536 | likely_pathogenic | 0.7501 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| T/D | 0.756 | likely_pathogenic | 0.7183 | pathogenic | -0.916 | Destabilizing | 0.97 | D | 0.513 | neutral | None | None | None | None | N |
| T/E | 0.6266 | likely_pathogenic | 0.5356 | ambiguous | -0.783 | Destabilizing | 0.97 | D | 0.503 | neutral | None | None | None | None | N |
| T/F | 0.5711 | likely_pathogenic | 0.529 | ambiguous | -0.529 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| T/G | 0.6897 | likely_pathogenic | 0.6725 | pathogenic | -1.277 | Destabilizing | 0.931 | D | 0.533 | neutral | None | None | None | None | N |
| T/H | 0.52 | ambiguous | 0.4572 | ambiguous | -1.412 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| T/I | 0.3593 | ambiguous | 0.2838 | benign | 0.081 | Stabilizing | 0.994 | D | 0.569 | neutral | N | 0.485202712 | None | None | N |
| T/K | 0.439 | ambiguous | 0.3252 | benign | -0.822 | Destabilizing | 0.97 | D | 0.51 | neutral | None | None | None | None | N |
| T/L | 0.2779 | likely_benign | 0.2485 | benign | 0.081 | Stabilizing | 0.97 | D | 0.504 | neutral | None | None | None | None | N |
| T/M | 0.1932 | likely_benign | 0.1779 | benign | 0.135 | Stabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| T/N | 0.3163 | likely_benign | 0.2954 | benign | -1.193 | Destabilizing | 0.961 | D | 0.499 | neutral | N | 0.495545059 | None | None | N |
| T/P | 0.8815 | likely_pathogenic | 0.8678 | pathogenic | -0.212 | Destabilizing | 0.994 | D | 0.569 | neutral | N | 0.507661833 | None | None | N |
| T/Q | 0.472 | ambiguous | 0.3883 | ambiguous | -1.045 | Destabilizing | 0.996 | D | 0.599 | neutral | None | None | None | None | N |
| T/R | 0.4101 | ambiguous | 0.3118 | benign | -0.842 | Destabilizing | 0.996 | D | 0.57 | neutral | None | None | None | None | N |
| T/S | 0.2356 | likely_benign | 0.2297 | benign | -1.413 | Destabilizing | 0.122 | N | 0.229 | neutral | N | 0.467754485 | None | None | N |
| T/V | 0.3149 | likely_benign | 0.2669 | benign | -0.212 | Destabilizing | 0.97 | D | 0.49 | neutral | None | None | None | None | N |
| T/W | 0.8896 | likely_pathogenic | 0.866 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/Y | 0.6213 | likely_pathogenic | 0.569 | pathogenic | -0.363 | Destabilizing | 0.999 | D | 0.681 | prob.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.