Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7017 | 21274;21275;21276 | chr2:178724326;178724325;178724324 | chr2:179589053;179589052;179589051 |
| N2AB | 6700 | 20323;20324;20325 | chr2:178724326;178724325;178724324 | chr2:179589053;179589052;179589051 |
| N2A | 5773 | 17542;17543;17544 | chr2:178724326;178724325;178724324 | chr2:179589053;179589052;179589051 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/A | rs1483904842  |
-0.911 | 0.625 | N | 0.462 | 0.149 | 0.208816687407 | 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 |
| T/A | rs1483904842 |
-0.911 | 0.625 | N | 0.462 | 0.149 | 0.208816687407 | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 2.28822E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs893338987 |
-0.091 | 0.669 | N | 0.519 | 0.221 | 0.447410926215 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 1.40568E-04 |
| T/I | rs893338987 |
-0.091 | 0.669 | N | 0.519 | 0.221 | 0.447410926215 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/I | rs893338987 |
-0.091 | 0.669 | N | 0.519 | 0.221 | 0.447410926215 | gnomAD-4.0.0 | 6.8176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93398E-06 | 2.19602E-05 | 3.20287E-05 |
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 | 0.0726 | likely_benign | 0.0751 | benign | -1.148 | Destabilizing | 0.625 | D | 0.462 | neutral | N | 0.474125884 | None | None | N |
| T/C | 0.3156 | likely_benign | 0.3356 | benign | -0.731 | Destabilizing | 0.998 | D | 0.567 | neutral | None | None | None | None | N |
| T/D | 0.2483 | likely_benign | 0.2721 | benign | -0.739 | Destabilizing | 0.016 | N | 0.255 | neutral | None | None | None | None | N |
| T/E | 0.1696 | likely_benign | 0.1893 | benign | -0.697 | Destabilizing | 0.007 | N | 0.257 | neutral | None | None | None | None | N |
| T/F | 0.1426 | likely_benign | 0.1421 | benign | -1.174 | Destabilizing | 0.949 | D | 0.609 | neutral | None | None | None | None | N |
| T/G | 0.2319 | likely_benign | 0.2502 | benign | -1.439 | Destabilizing | 0.915 | D | 0.535 | neutral | None | None | None | None | N |
| T/H | 0.1648 | likely_benign | 0.1705 | benign | -1.678 | Destabilizing | 0.974 | D | 0.593 | neutral | None | None | None | None | N |
| T/I | 0.0916 | likely_benign | 0.0891 | benign | -0.443 | Destabilizing | 0.669 | D | 0.519 | neutral | N | 0.464332965 | None | None | N |
| T/K | 0.1237 | likely_benign | 0.1288 | benign | -0.799 | Destabilizing | 0.669 | D | 0.501 | neutral | N | 0.460271152 | None | None | N |
| T/L | 0.0709 | likely_benign | 0.0682 | benign | -0.443 | Destabilizing | 0.016 | N | 0.266 | neutral | None | None | None | None | N |
| T/M | 0.0771 | likely_benign | 0.0748 | benign | -0.048 | Destabilizing | 0.949 | D | 0.579 | neutral | None | None | None | None | N |
| T/N | 0.0848 | likely_benign | 0.0846 | benign | -0.911 | Destabilizing | 0.842 | D | 0.475 | neutral | None | None | None | None | N |
| T/P | 0.14 | likely_benign | 0.1426 | benign | -0.647 | Destabilizing | 0.966 | D | 0.575 | neutral | N | 0.517666017 | None | None | N |
| T/Q | 0.1422 | likely_benign | 0.1488 | benign | -1.073 | Destabilizing | 0.728 | D | 0.549 | neutral | None | None | None | None | N |
| T/R | 0.0938 | likely_benign | 0.0982 | benign | -0.586 | Destabilizing | 0.934 | D | 0.571 | neutral | N | 0.43254862 | None | None | N |
| T/S | 0.0947 | likely_benign | 0.0957 | benign | -1.208 | Destabilizing | 0.625 | D | 0.481 | neutral | N | 0.467045196 | None | None | N |
| T/V | 0.0943 | likely_benign | 0.0918 | benign | -0.647 | Destabilizing | 0.728 | D | 0.463 | neutral | None | None | None | None | N |
| T/W | 0.3806 | ambiguous | 0.3858 | ambiguous | -1.086 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| T/Y | 0.161 | likely_benign | 0.1652 | benign | -0.841 | Destabilizing | 0.974 | D | 0.613 | 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.