Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32650 | 98173;98174;98175 | chr2:178540218;178540217;178540216 | chr2:179404945;179404944;179404943 |
| N2AB | 31009 | 93250;93251;93252 | chr2:178540218;178540217;178540216 | chr2:179404945;179404944;179404943 |
| N2A | 30082 | 90469;90470;90471 | chr2:178540218;178540217;178540216 | chr2:179404945;179404944;179404943 |
| N2B | 23585 | 70978;70979;70980 | chr2:178540218;178540217;178540216 | chr2:179404945;179404944;179404943 |
| Novex-1 | 23710 | 71353;71354;71355 | chr2:178540218;178540217;178540216 | chr2:179404945;179404944;179404943 |
| Novex-2 | 23777 | 71554;71555;71556 | chr2:178540218;178540217;178540216 | chr2:179404945;179404944;179404943 |
| 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/S | rs770473138  |
-2.098 | 1.0 | N | 0.72 | 0.509 | 0.671674792424 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs535612231 |
-1.686 | 1.0 | N | 0.817 | 0.417 | 0.730530531519 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 1.40292E-04 |
| C/Y | rs535612231 |
-1.686 | 1.0 | N | 0.817 | 0.417 | 0.730530531519 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 4.83E-05 | 3.27826E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| C/Y | rs535612231 |
-1.686 | 1.0 | N | 0.817 | 0.417 | 0.730530531519 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| C/Y | rs535612231 |
-1.686 | 1.0 | N | 0.817 | 0.417 | 0.730530531519 | gnomAD-4.0.0 | 9.91531E-06 | None | None | None | None | N | None | 5.33447E-05 | 8.33444E-05 | None | 0 | 0 | None | 0 | 0 | 5.93373E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7893 | likely_pathogenic | 0.7503 | pathogenic | -2.25 | Highly Destabilizing | 0.998 | D | 0.493 | neutral | None | None | None | None | N |
| C/D | 0.995 | likely_pathogenic | 0.9939 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| C/E | 0.9962 | likely_pathogenic | 0.9953 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| C/F | 0.8366 | likely_pathogenic | 0.8182 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.470844898 | None | None | N |
| C/G | 0.7229 | likely_pathogenic | 0.6918 | pathogenic | -2.569 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.487040276 | None | None | N |
| C/H | 0.9826 | likely_pathogenic | 0.9781 | pathogenic | -2.273 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/I | 0.8355 | likely_pathogenic | 0.8017 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| C/K | 0.9965 | likely_pathogenic | 0.9956 | pathogenic | -1.442 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/L | 0.89 | likely_pathogenic | 0.8672 | pathogenic | -1.406 | Destabilizing | 0.999 | D | 0.525 | neutral | None | None | None | None | N |
| C/M | 0.9302 | likely_pathogenic | 0.9122 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| C/N | 0.9737 | likely_pathogenic | 0.9652 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| C/P | 0.994 | likely_pathogenic | 0.9919 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| C/Q | 0.9876 | likely_pathogenic | 0.984 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| C/R | 0.9785 | likely_pathogenic | 0.9756 | pathogenic | -1.168 | Destabilizing | 1.0 | D | 0.822 | deleterious | N | 0.499255501 | None | None | N |
| C/S | 0.8689 | likely_pathogenic | 0.8365 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.477138775 | None | None | N |
| C/T | 0.9219 | likely_pathogenic | 0.8961 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/V | 0.6943 | likely_pathogenic | 0.655 | pathogenic | -1.665 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| C/W | 0.9591 | likely_pathogenic | 0.9555 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.804 | deleterious | N | 0.520148141 | None | None | N |
| C/Y | 0.9005 | likely_pathogenic | 0.8894 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.482418694 | 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.