Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23209 | 69850;69851;69852 | chr2:178576619;178576618;178576617 | chr2:179441346;179441345;179441344 |
| N2AB | 21568 | 64927;64928;64929 | chr2:178576619;178576618;178576617 | chr2:179441346;179441345;179441344 |
| N2A | 20641 | 62146;62147;62148 | chr2:178576619;178576618;178576617 | chr2:179441346;179441345;179441344 |
| N2B | 14144 | 42655;42656;42657 | chr2:178576619;178576618;178576617 | chr2:179441346;179441345;179441344 |
| Novex-1 | 14269 | 43030;43031;43032 | chr2:178576619;178576618;178576617 | chr2:179441346;179441345;179441344 |
| Novex-2 | 14336 | 43231;43232;43233 | chr2:178576619;178576618;178576617 | chr2:179441346;179441345;179441344 |
| 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 | rs910182014  |
None | 0.175 | N | 0.429 | 0.152 | 0.223847106136 | gnomAD-4.0.0 | 6.84284E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99562E-07 | 0 | 0 |
| T/P | None | None | 0.175 | N | 0.387 | 0.232 | 0.193865811164 | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85915E-06 | 0 | 0 |
| T/S | rs910182014 |
-1.162 | None | N | 0.115 | 0.105 | 0.148003135375 | 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/S | rs910182014 |
-1.162 | None | N | 0.115 | 0.105 | 0.148003135375 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 4.47227E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0631 | likely_benign | 0.0631 | benign | -1.156 | Destabilizing | 0.019 | N | 0.26 | neutral | N | 0.459163926 | None | None | N |
| T/C | 0.2541 | likely_benign | 0.252 | benign | -0.827 | Destabilizing | 0.883 | D | 0.423 | neutral | None | None | None | None | N |
| T/D | 0.2403 | likely_benign | 0.251 | benign | -1.061 | Destabilizing | 0.055 | N | 0.396 | neutral | None | None | None | None | N |
| T/E | 0.1539 | likely_benign | 0.1426 | benign | -0.954 | Destabilizing | None | N | 0.205 | neutral | None | None | None | None | N |
| T/F | 0.1442 | likely_benign | 0.1398 | benign | -0.84 | Destabilizing | 0.667 | D | 0.431 | neutral | None | None | None | None | N |
| T/G | 0.1789 | likely_benign | 0.1948 | benign | -1.504 | Destabilizing | 0.055 | N | 0.394 | neutral | None | None | None | None | N |
| T/H | 0.1883 | likely_benign | 0.192 | benign | -1.623 | Destabilizing | 0.667 | D | 0.462 | neutral | None | None | None | None | N |
| T/I | 0.0958 | likely_benign | 0.0911 | benign | -0.274 | Destabilizing | 0.175 | N | 0.429 | neutral | N | 0.463801742 | None | None | N |
| T/K | 0.1724 | likely_benign | 0.1751 | benign | -0.858 | Destabilizing | 0.055 | N | 0.389 | neutral | None | None | None | None | N |
| T/L | 0.0618 | likely_benign | 0.0593 | benign | -0.274 | Destabilizing | 0.104 | N | 0.379 | neutral | None | None | None | None | N |
| T/M | 0.0755 | likely_benign | 0.0723 | benign | -0.142 | Destabilizing | 0.667 | D | 0.437 | neutral | None | None | None | None | N |
| T/N | 0.0911 | likely_benign | 0.0991 | benign | -1.136 | Destabilizing | 0.096 | N | 0.34 | neutral | N | 0.464588389 | None | None | N |
| T/P | 0.1051 | likely_benign | 0.1116 | benign | -0.537 | Destabilizing | 0.175 | N | 0.387 | neutral | N | 0.484657017 | None | None | N |
| T/Q | 0.1548 | likely_benign | 0.1524 | benign | -1.139 | Destabilizing | 0.004 | N | 0.223 | neutral | None | None | None | None | N |
| T/R | 0.1466 | likely_benign | 0.1486 | benign | -0.784 | Destabilizing | 0.124 | N | 0.39 | neutral | None | None | None | None | N |
| T/S | 0.0799 | likely_benign | 0.0835 | benign | -1.398 | Destabilizing | None | N | 0.115 | neutral | N | 0.4235312 | None | None | N |
| T/V | 0.0796 | likely_benign | 0.0726 | benign | -0.537 | Destabilizing | 0.104 | N | 0.341 | neutral | None | None | None | None | N |
| T/W | 0.395 | ambiguous | 0.3973 | ambiguous | -0.851 | Destabilizing | 0.958 | D | 0.453 | neutral | None | None | None | None | N |
| T/Y | 0.161 | likely_benign | 0.1633 | benign | -0.58 | Destabilizing | 0.667 | D | 0.435 | 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.