Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27621 | 83086;83087;83088 | chr2:178563271;178563270;178563269 | chr2:179427998;179427997;179427996 |
| N2AB | 25980 | 78163;78164;78165 | chr2:178563271;178563270;178563269 | chr2:179427998;179427997;179427996 |
| N2A | 25053 | 75382;75383;75384 | chr2:178563271;178563270;178563269 | chr2:179427998;179427997;179427996 |
| N2B | 18556 | 55891;55892;55893 | chr2:178563271;178563270;178563269 | chr2:179427998;179427997;179427996 |
| Novex-1 | 18681 | 56266;56267;56268 | chr2:178563271;178563270;178563269 | chr2:179427998;179427997;179427996 |
| Novex-2 | 18748 | 56467;56468;56469 | chr2:178563271;178563270;178563269 | chr2:179427998;179427997;179427996 |
| 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 | rs777261234  |
0.278 | 0.82 | N | 0.657 | 0.332 | 0.34854441366 | 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 |
| T/I | rs777261234 |
0.278 | 0.82 | N | 0.657 | 0.332 | 0.34854441366 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-07 | 1.15934E-05 | 0 |
| T/S | rs1483279055 |
-1.337 | 0.034 | N | 0.337 | 0.197 | 0.115124310173 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.24049E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1483279055 |
-1.337 | 0.034 | N | 0.337 | 0.197 | 0.115124310173 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1483279055 |
-1.337 | 0.034 | N | 0.337 | 0.197 | 0.115124310173 | gnomAD-4.0.0 | 3.84416E-06 | None | None | None | None | N | None | 5.07597E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.4325 | ambiguous | 0.3865 | ambiguous | -1.088 | Destabilizing | 0.349 | N | 0.618 | neutral | N | 0.501552053 | None | None | N |
| T/C | 0.8187 | likely_pathogenic | 0.7991 | pathogenic | -0.636 | Destabilizing | 0.996 | D | 0.646 | neutral | None | None | None | None | N |
| T/D | 0.9259 | likely_pathogenic | 0.9198 | pathogenic | -0.246 | Destabilizing | 0.923 | D | 0.659 | neutral | None | None | None | None | N |
| T/E | 0.9425 | likely_pathogenic | 0.9303 | pathogenic | -0.15 | Destabilizing | 0.775 | D | 0.649 | neutral | None | None | None | None | N |
| T/F | 0.829 | likely_pathogenic | 0.8013 | pathogenic | -1.01 | Destabilizing | 0.923 | D | 0.651 | neutral | None | None | None | None | N |
| T/G | 0.6607 | likely_pathogenic | 0.635 | pathogenic | -1.432 | Destabilizing | 0.633 | D | 0.644 | neutral | None | None | None | None | N |
| T/H | 0.737 | likely_pathogenic | 0.698 | pathogenic | -1.606 | Destabilizing | 0.989 | D | 0.661 | neutral | None | None | None | None | N |
| T/I | 0.7218 | likely_pathogenic | 0.6935 | pathogenic | -0.232 | Destabilizing | 0.82 | D | 0.657 | neutral | N | 0.513153127 | None | None | N |
| T/K | 0.9238 | likely_pathogenic | 0.9004 | pathogenic | -0.576 | Destabilizing | 0.633 | D | 0.642 | neutral | None | None | None | None | N |
| T/L | 0.4179 | ambiguous | 0.3725 | ambiguous | -0.232 | Destabilizing | 0.372 | N | 0.585 | neutral | None | None | None | None | N |
| T/M | 0.3899 | ambiguous | 0.3679 | ambiguous | -0.079 | Destabilizing | 0.415 | N | 0.553 | neutral | None | None | None | None | N |
| T/N | 0.4534 | ambiguous | 0.4594 | ambiguous | -0.821 | Destabilizing | 0.82 | D | 0.694 | prob.neutral | N | 0.440674166 | None | None | N |
| T/P | 0.5299 | ambiguous | 0.5471 | ambiguous | -0.484 | Destabilizing | 0.949 | D | 0.645 | neutral | N | 0.508632741 | None | None | N |
| T/Q | 0.8637 | likely_pathogenic | 0.8384 | pathogenic | -0.77 | Destabilizing | 0.923 | D | 0.668 | neutral | None | None | None | None | N |
| T/R | 0.8942 | likely_pathogenic | 0.8688 | pathogenic | -0.587 | Destabilizing | 0.923 | D | 0.647 | neutral | None | None | None | None | N |
| T/S | 0.2195 | likely_benign | 0.2171 | benign | -1.18 | Destabilizing | 0.034 | N | 0.337 | neutral | N | 0.50316542 | None | None | N |
| T/V | 0.5884 | likely_pathogenic | 0.5542 | ambiguous | -0.484 | Destabilizing | 0.633 | D | 0.635 | neutral | None | None | None | None | N |
| T/W | 0.9581 | likely_pathogenic | 0.9535 | pathogenic | -0.979 | Destabilizing | 0.996 | D | 0.666 | neutral | None | None | None | None | N |
| T/Y | 0.8739 | likely_pathogenic | 0.8474 | pathogenic | -0.697 | Destabilizing | 0.961 | D | 0.673 | 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.