Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16569 | 49930;49931;49932 | chr2:178613016;178613015;178613014 | chr2:179477743;179477742;179477741 |
| N2AB | 14928 | 45007;45008;45009 | chr2:178613016;178613015;178613014 | chr2:179477743;179477742;179477741 |
| N2A | 14001 | 42226;42227;42228 | chr2:178613016;178613015;178613014 | chr2:179477743;179477742;179477741 |
| N2B | 7504 | 22735;22736;22737 | chr2:178613016;178613015;178613014 | chr2:179477743;179477742;179477741 |
| Novex-1 | 7629 | 23110;23111;23112 | chr2:178613016;178613015;178613014 | chr2:179477743;179477742;179477741 |
| Novex-2 | 7696 | 23311;23312;23313 | chr2:178613016;178613015;178613014 | chr2:179477743;179477742;179477741 |
| 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/S | rs879180534  |
-1.585 | None | N | 0.27 | 0.195 | 0.0551355673512 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 8E-05 | 2.35E-05 | 0 |
| R/S | rs879180534 |
-1.585 | None | N | 0.27 | 0.195 | 0.0551355673512 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/S | rs879180534 |
-1.585 | None | N | 0.27 | 0.195 | 0.0551355673512 | gnomAD-4.0.0 | 7.44105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.12432E-05 | 0 | 8.47994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1511 | likely_benign | 0.1243 | benign | -0.953 | Destabilizing | None | N | 0.267 | neutral | None | None | None | None | N |
| R/C | 0.1392 | likely_benign | 0.1072 | benign | -0.887 | Destabilizing | 0.008 | N | 0.501 | neutral | None | None | None | None | N |
| R/D | 0.4848 | ambiguous | 0.4709 | ambiguous | -0.128 | Destabilizing | None | N | 0.396 | neutral | None | None | None | None | N |
| R/E | 0.2276 | likely_benign | 0.237 | benign | 0.012 | Stabilizing | None | N | 0.282 | neutral | None | None | None | None | N |
| R/F | 0.1681 | likely_benign | 0.1372 | benign | -0.647 | Destabilizing | None | N | 0.415 | neutral | None | None | None | None | N |
| R/G | 0.1817 | likely_benign | 0.1542 | benign | -1.289 | Destabilizing | None | N | 0.353 | neutral | N | 0.482452882 | None | None | N |
| R/H | 0.0929 | likely_benign | 0.0819 | benign | -1.469 | Destabilizing | 0.01 | N | 0.361 | neutral | None | None | None | None | N |
| R/I | 0.0803 | likely_benign | 0.0736 | benign | -0.037 | Destabilizing | None | N | 0.444 | neutral | None | None | None | None | N |
| R/K | 0.086 | likely_benign | 0.0785 | benign | -0.999 | Destabilizing | None | N | 0.257 | neutral | N | 0.442523765 | None | None | N |
| R/L | 0.0769 | likely_benign | 0.0664 | benign | -0.037 | Destabilizing | None | N | 0.317 | neutral | None | None | None | None | N |
| R/M | 0.0567 | likely_benign | 0.0559 | benign | -0.362 | Destabilizing | None | N | 0.256 | neutral | N | 0.470713443 | None | None | N |
| R/N | 0.2621 | likely_benign | 0.2185 | benign | -0.436 | Destabilizing | None | N | 0.315 | neutral | None | None | None | None | N |
| R/P | 0.747 | likely_pathogenic | 0.7424 | pathogenic | -0.322 | Destabilizing | 0.001 | N | 0.421 | neutral | None | None | None | None | N |
| R/Q | 0.0813 | likely_benign | 0.0737 | benign | -0.577 | Destabilizing | 0.001 | N | 0.305 | neutral | None | None | None | None | N |
| R/S | 0.1812 | likely_benign | 0.1497 | benign | -1.253 | Destabilizing | None | N | 0.27 | neutral | N | 0.398033148 | None | None | N |
| R/T | 0.0669 | likely_benign | 0.0596 | benign | -0.922 | Destabilizing | None | N | 0.249 | neutral | N | 0.385878652 | None | None | N |
| R/V | 0.0904 | likely_benign | 0.0858 | benign | -0.322 | Destabilizing | None | N | 0.415 | neutral | None | None | None | None | N |
| R/W | 0.1123 | likely_benign | 0.096 | benign | -0.23 | Destabilizing | 0.018 | N | 0.477 | neutral | N | 0.510390876 | None | None | N |
| R/Y | 0.169 | likely_benign | 0.1438 | benign | 0.03 | Stabilizing | None | N | 0.349 | 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.