Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2211 | 6856;6857;6858 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
| N2AB | 2211 | 6856;6857;6858 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
| N2A | 2211 | 6856;6857;6858 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
| N2B | 2165 | 6718;6719;6720 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
| Novex-1 | 2165 | 6718;6719;6720 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
| Novex-2 | 2165 | 6718;6719;6720 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
| Novex-3 | 2211 | 6856;6857;6858 | chr2:178775080;178775079;178775078 | chr2:179639807;179639806;179639805 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs779819023  |
-0.535 | 0.338 | N | 0.372 | 0.143 | 0.124217242631 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs779819023 |
-0.535 | 0.338 | N | 0.372 | 0.143 | 0.124217242631 | gnomAD-4.0.0 | 3.18155E-06 | None | None | None | None | N | None | 5.65547E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| G/V | None | None | 0.879 | N | 0.527 | 0.212 | 0.520963378925 | gnomAD-4.0.0 | 1.59077E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2047 | likely_benign | 0.1911 | benign | -0.308 | Destabilizing | 0.505 | D | 0.369 | neutral | N | 0.439865397 | None | None | N |
| G/C | 0.2921 | likely_benign | 0.2704 | benign | -0.842 | Destabilizing | 0.988 | D | 0.585 | neutral | N | 0.441363809 | None | None | N |
| G/D | 0.1302 | likely_benign | 0.1275 | benign | -0.64 | Destabilizing | 0.003 | N | 0.269 | neutral | N | 0.334265442 | None | None | N |
| G/E | 0.1856 | likely_benign | 0.175 | benign | -0.794 | Destabilizing | 0.404 | N | 0.422 | neutral | None | None | None | None | N |
| G/F | 0.6126 | likely_pathogenic | 0.5812 | pathogenic | -0.994 | Destabilizing | 0.967 | D | 0.535 | neutral | None | None | None | None | N |
| G/H | 0.2839 | likely_benign | 0.266 | benign | -0.489 | Destabilizing | 0.906 | D | 0.471 | neutral | None | None | None | None | N |
| G/I | 0.4258 | ambiguous | 0.4067 | ambiguous | -0.434 | Destabilizing | 0.906 | D | 0.534 | neutral | None | None | None | None | N |
| G/K | 0.2689 | likely_benign | 0.255 | benign | -0.854 | Destabilizing | 0.404 | N | 0.441 | neutral | None | None | None | None | N |
| G/L | 0.5455 | ambiguous | 0.5128 | ambiguous | -0.434 | Destabilizing | 0.826 | D | 0.517 | neutral | None | None | None | None | N |
| G/M | 0.5159 | ambiguous | 0.4866 | ambiguous | -0.548 | Destabilizing | 0.991 | D | 0.539 | neutral | None | None | None | None | N |
| G/N | 0.1549 | likely_benign | 0.149 | benign | -0.483 | Destabilizing | 0.018 | N | 0.198 | neutral | None | None | None | None | N |
| G/P | 0.9523 | likely_pathogenic | 0.9439 | pathogenic | -0.36 | Destabilizing | 0.906 | D | 0.47 | neutral | None | None | None | None | N |
| G/Q | 0.2221 | likely_benign | 0.2085 | benign | -0.761 | Destabilizing | 0.826 | D | 0.467 | neutral | None | None | None | None | N |
| G/R | 0.1981 | likely_benign | 0.1855 | benign | -0.381 | Destabilizing | 0.007 | N | 0.297 | neutral | N | 0.418736832 | None | None | N |
| G/S | 0.1045 | likely_benign | 0.0986 | benign | -0.617 | Destabilizing | 0.338 | N | 0.372 | neutral | N | 0.380431663 | None | None | N |
| G/T | 0.2314 | likely_benign | 0.2176 | benign | -0.702 | Destabilizing | 0.575 | D | 0.434 | neutral | None | None | None | None | N |
| G/V | 0.3636 | ambiguous | 0.3419 | ambiguous | -0.36 | Destabilizing | 0.879 | D | 0.527 | neutral | N | 0.477942251 | None | None | N |
| G/W | 0.5036 | ambiguous | 0.4791 | ambiguous | -1.153 | Destabilizing | 0.991 | D | 0.578 | neutral | None | None | None | None | N |
| G/Y | 0.4264 | ambiguous | 0.4054 | ambiguous | -0.81 | Destabilizing | 0.967 | D | 0.535 | 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.