Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34991 | 105196;105197;105198 | chr2:178531644;178531643;178531642 | chr2:179396371;179396370;179396369 |
| N2AB | 33350 | 100273;100274;100275 | chr2:178531644;178531643;178531642 | chr2:179396371;179396370;179396369 |
| N2A | 32423 | 97492;97493;97494 | chr2:178531644;178531643;178531642 | chr2:179396371;179396370;179396369 |
| N2B | 25926 | 78001;78002;78003 | chr2:178531644;178531643;178531642 | chr2:179396371;179396370;179396369 |
| Novex-1 | 26051 | 78376;78377;78378 | chr2:178531644;178531643;178531642 | chr2:179396371;179396370;179396369 |
| Novex-2 | 26118 | 78577;78578;78579 | chr2:178531644;178531643;178531642 | chr2:179396371;179396370;179396369 |
| 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 | rs764200285  |
-0.908 | 0.76 | N | 0.437 | 0.192 | 0.399159426805 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| T/A | rs764200285 |
-0.908 | 0.76 | N | 0.437 | 0.192 | 0.399159426805 | gnomAD-4.0.0 | 4.77271E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 2.85757E-06 | 0 | 3.02334E-05 |
| T/I | None | None | 0.991 | N | 0.646 | 0.347 | 0.556540827966 | gnomAD-4.0.0 | 1.59091E-06 | None | None | None | None | N | None | 5.65227E-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 | 0.1282 | likely_benign | 0.1495 | benign | -0.746 | Destabilizing | 0.76 | D | 0.437 | neutral | N | 0.494733229 | None | None | N |
| T/C | 0.5582 | ambiguous | 0.6164 | pathogenic | -0.288 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| T/D | 0.561 | ambiguous | 0.6817 | pathogenic | -0.46 | Destabilizing | 0.986 | D | 0.577 | neutral | None | None | None | None | N |
| T/E | 0.4063 | ambiguous | 0.5181 | ambiguous | -0.461 | Destabilizing | 0.986 | D | 0.583 | neutral | None | None | None | None | N |
| T/F | 0.3681 | ambiguous | 0.4551 | ambiguous | -0.782 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| T/G | 0.3927 | ambiguous | 0.438 | ambiguous | -1.015 | Destabilizing | 0.91 | D | 0.545 | neutral | None | None | None | None | N |
| T/H | 0.2625 | likely_benign | 0.3289 | benign | -1.363 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| T/I | 0.281 | likely_benign | 0.3765 | ambiguous | -0.118 | Destabilizing | 0.991 | D | 0.646 | neutral | N | 0.457236421 | None | None | N |
| T/K | 0.2441 | likely_benign | 0.3166 | benign | -0.789 | Destabilizing | 0.986 | D | 0.582 | neutral | None | None | None | None | N |
| T/L | 0.1701 | likely_benign | 0.2169 | benign | -0.118 | Destabilizing | 0.953 | D | 0.543 | neutral | None | None | None | None | N |
| T/M | 0.1333 | likely_benign | 0.1531 | benign | 0.249 | Stabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| T/N | 0.2021 | likely_benign | 0.2568 | benign | -0.665 | Destabilizing | 0.982 | D | 0.529 | neutral | N | 0.486172461 | None | None | N |
| T/P | 0.7491 | likely_pathogenic | 0.8556 | pathogenic | -0.295 | Destabilizing | 0.991 | D | 0.647 | neutral | D | 0.530059311 | None | None | N |
| T/Q | 0.2397 | likely_benign | 0.3034 | benign | -0.823 | Destabilizing | 0.993 | D | 0.639 | neutral | None | None | None | None | N |
| T/R | 0.1696 | likely_benign | 0.2294 | benign | -0.564 | Destabilizing | 0.986 | D | 0.645 | neutral | None | None | None | None | N |
| T/S | 0.1376 | likely_benign | 0.1572 | benign | -0.873 | Destabilizing | 0.17 | N | 0.219 | neutral | N | 0.413674858 | None | None | N |
| T/V | 0.223 | likely_benign | 0.2708 | benign | -0.295 | Destabilizing | 0.953 | D | 0.481 | neutral | None | None | None | None | N |
| T/W | 0.6834 | likely_pathogenic | 0.7505 | pathogenic | -0.761 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| T/Y | 0.3979 | ambiguous | 0.4874 | ambiguous | -0.54 | Destabilizing | 0.998 | D | 0.64 | 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.