Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28609 | 86050;86051;86052 | chr2:178560307;178560306;178560305 | chr2:179425034;179425033;179425032 |
| N2AB | 26968 | 81127;81128;81129 | chr2:178560307;178560306;178560305 | chr2:179425034;179425033;179425032 |
| N2A | 26041 | 78346;78347;78348 | chr2:178560307;178560306;178560305 | chr2:179425034;179425033;179425032 |
| N2B | 19544 | 58855;58856;58857 | chr2:178560307;178560306;178560305 | chr2:179425034;179425033;179425032 |
| Novex-1 | 19669 | 59230;59231;59232 | chr2:178560307;178560306;178560305 | chr2:179425034;179425033;179425032 |
| Novex-2 | 19736 | 59431;59432;59433 | chr2:178560307;178560306;178560305 | chr2:179425034;179425033;179425032 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 0.892 | N | 0.602 | 0.37 | 0.559310644637 | gnomAD-4.0.0 | 1.59128E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85827E-06 | 0 | 0 |
| R/K | None | None | 0.025 | N | 0.359 | 0.154 | 0.185906805712 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| R/T | rs755662471  |
-0.28 | 0.967 | N | 0.677 | 0.326 | 0.480574121323 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs755662471 |
-0.28 | 0.967 | N | 0.677 | 0.326 | 0.480574121323 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | N | None | 0 | 2.23604E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8833 | likely_pathogenic | 0.8544 | pathogenic | -0.321 | Destabilizing | 0.845 | D | 0.573 | neutral | None | None | None | None | N |
| R/C | 0.4033 | ambiguous | 0.3398 | benign | -0.388 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/D | 0.9675 | likely_pathogenic | 0.9625 | pathogenic | -0.001 | Destabilizing | 0.975 | D | 0.665 | neutral | None | None | None | None | N |
| R/E | 0.8318 | likely_pathogenic | 0.7941 | pathogenic | 0.129 | Stabilizing | 0.845 | D | 0.551 | neutral | None | None | None | None | N |
| R/F | 0.8774 | likely_pathogenic | 0.8586 | pathogenic | -0.153 | Destabilizing | 0.996 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/G | 0.8184 | likely_pathogenic | 0.7667 | pathogenic | -0.625 | Destabilizing | 0.892 | D | 0.602 | neutral | N | 0.483334201 | None | None | N |
| R/H | 0.258 | likely_benign | 0.2188 | benign | -1.074 | Destabilizing | 0.987 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/I | 0.7633 | likely_pathogenic | 0.7219 | pathogenic | 0.484 | Stabilizing | 0.983 | D | 0.696 | prob.neutral | N | 0.470839033 | None | None | N |
| R/K | 0.3555 | ambiguous | 0.3216 | benign | -0.369 | Destabilizing | 0.025 | N | 0.359 | neutral | N | 0.472709227 | None | None | N |
| R/L | 0.6563 | likely_pathogenic | 0.6042 | pathogenic | 0.484 | Stabilizing | 0.916 | D | 0.602 | neutral | None | None | None | None | N |
| R/M | 0.7239 | likely_pathogenic | 0.6746 | pathogenic | -0.066 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| R/N | 0.9341 | likely_pathogenic | 0.9252 | pathogenic | -0.066 | Destabilizing | 0.975 | D | 0.661 | neutral | None | None | None | None | N |
| R/P | 0.9726 | likely_pathogenic | 0.9623 | pathogenic | 0.238 | Stabilizing | 0.987 | D | 0.685 | prob.neutral | None | None | None | None | N |
| R/Q | 0.3047 | likely_benign | 0.2547 | benign | -0.11 | Destabilizing | 0.975 | D | 0.669 | neutral | None | None | None | None | N |
| R/S | 0.9088 | likely_pathogenic | 0.8921 | pathogenic | -0.609 | Destabilizing | 0.892 | D | 0.634 | neutral | N | 0.484864873 | None | None | N |
| R/T | 0.7235 | likely_pathogenic | 0.6872 | pathogenic | -0.298 | Destabilizing | 0.967 | D | 0.677 | prob.neutral | N | 0.482750075 | None | None | N |
| R/V | 0.8024 | likely_pathogenic | 0.7792 | pathogenic | 0.238 | Stabilizing | 0.975 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/W | 0.353 | ambiguous | 0.2991 | benign | 0.024 | Stabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| R/Y | 0.7205 | likely_pathogenic | 0.6844 | pathogenic | 0.352 | Stabilizing | 0.996 | D | 0.694 | 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.