Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26489 | 79690;79691;79692 | chr2:178566667;178566666;178566665 | chr2:179431394;179431393;179431392 |
| N2AB | 24848 | 74767;74768;74769 | chr2:178566667;178566666;178566665 | chr2:179431394;179431393;179431392 |
| N2A | 23921 | 71986;71987;71988 | chr2:178566667;178566666;178566665 | chr2:179431394;179431393;179431392 |
| N2B | 17424 | 52495;52496;52497 | chr2:178566667;178566666;178566665 | chr2:179431394;179431393;179431392 |
| Novex-1 | 17549 | 52870;52871;52872 | chr2:178566667;178566666;178566665 | chr2:179431394;179431393;179431392 |
| Novex-2 | 17616 | 53071;53072;53073 | chr2:178566667;178566666;178566665 | chr2:179431394;179431393;179431392 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs772724683  |
-0.9 | 1.0 | N | 0.786 | 0.501 | 0.613219013741 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/C | rs772724683 |
-0.9 | 1.0 | N | 0.786 | 0.501 | 0.613219013741 | gnomAD-4.0.0 | 1.59269E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| G/S | rs772724683 |
-1.241 | 1.0 | N | 0.749 | 0.439 | 0.136095386433 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/S | rs772724683 |
-1.241 | 1.0 | N | 0.749 | 0.439 | 0.136095386433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs772724683 |
-1.241 | 1.0 | N | 0.749 | 0.439 | 0.136095386433 | gnomAD-4.0.0 | 2.56452E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78714E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3684 | ambiguous | 0.3494 | ambiguous | -0.869 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.484747827 | None | None | N |
| G/C | 0.702 | likely_pathogenic | 0.6883 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.521009244 | None | None | N |
| G/D | 0.9185 | likely_pathogenic | 0.9399 | pathogenic | -1.942 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.470349648 | None | None | N |
| G/E | 0.927 | likely_pathogenic | 0.9354 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/F | 0.9561 | likely_pathogenic | 0.9485 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/H | 0.9646 | likely_pathogenic | 0.9666 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/I | 0.9311 | likely_pathogenic | 0.9223 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/K | 0.9827 | likely_pathogenic | 0.9837 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.8979 | likely_pathogenic | 0.8955 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/M | 0.9271 | likely_pathogenic | 0.9262 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/N | 0.9056 | likely_pathogenic | 0.9199 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/P | 0.9926 | likely_pathogenic | 0.9929 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Q | 0.9368 | likely_pathogenic | 0.9401 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/R | 0.9581 | likely_pathogenic | 0.9566 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.501891031 | None | None | N |
| G/S | 0.2531 | likely_benign | 0.2735 | benign | -1.381 | Destabilizing | 1.0 | D | 0.749 | deleterious | N | 0.448242467 | None | None | N |
| G/T | 0.7648 | likely_pathogenic | 0.783 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/V | 0.8768 | likely_pathogenic | 0.8629 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.520502265 | None | None | N |
| G/W | 0.9515 | likely_pathogenic | 0.9429 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Y | 0.9465 | likely_pathogenic | 0.9404 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.852 | 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.