Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26928 | 81007;81008;81009 | chr2:178565350;178565349;178565348 | chr2:179430077;179430076;179430075 |
| N2AB | 25287 | 76084;76085;76086 | chr2:178565350;178565349;178565348 | chr2:179430077;179430076;179430075 |
| N2A | 24360 | 73303;73304;73305 | chr2:178565350;178565349;178565348 | chr2:179430077;179430076;179430075 |
| N2B | 17863 | 53812;53813;53814 | chr2:178565350;178565349;178565348 | chr2:179430077;179430076;179430075 |
| Novex-1 | 17988 | 54187;54188;54189 | chr2:178565350;178565349;178565348 | chr2:179430077;179430076;179430075 |
| Novex-2 | 18055 | 54388;54389;54390 | chr2:178565350;178565349;178565348 | chr2:179430077;179430076;179430075 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs879215836  |
None | 0.645 | D | 0.437 | 0.485 | 0.601764293677 | gnomAD-4.0.0 | 6.36647E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85907E-06 | 4.29935E-05 | 0 |
| V/I | rs780885076 |
-0.647 | 0.031 | N | 0.256 | 0.075 | 0.339074221408 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11371E-04 | None | 6.54E-05 | None | 0 | 8.89E-06 | 0 |
| V/I | rs780885076 |
-0.647 | 0.031 | N | 0.256 | 0.075 | 0.339074221408 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs780885076 |
-0.647 | 0.031 | N | 0.256 | 0.075 | 0.339074221408 | gnomAD-4.0.0 | 1.17757E-05 | None | None | None | None | N | None | 2.67065E-05 | 0 | None | 0 | 4.45812E-05 | None | 0 | 0 | 7.62916E-06 | 5.49064E-05 | 1.60143E-05 |
| V/L | None | None | 0.247 | D | 0.419 | 0.151 | 0.308278614506 | gnomAD-4.0.0 | 2.73711E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74546E-05 | 0 | 1.7991E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1704 | likely_benign | 0.1541 | benign | -2.11 | Highly Destabilizing | 0.645 | D | 0.437 | neutral | D | 0.53277433 | None | None | N |
| V/C | 0.6933 | likely_pathogenic | 0.6455 | pathogenic | -1.404 | Destabilizing | 0.995 | D | 0.728 | prob.delet. | None | None | None | None | N |
| V/D | 0.6974 | likely_pathogenic | 0.6611 | pathogenic | -2.882 | Highly Destabilizing | 0.928 | D | 0.792 | deleterious | D | 0.533571357 | None | None | N |
| V/E | 0.5579 | ambiguous | 0.5576 | ambiguous | -2.714 | Highly Destabilizing | 0.945 | D | 0.742 | deleterious | None | None | None | None | N |
| V/F | 0.1709 | likely_benign | 0.1558 | benign | -1.413 | Destabilizing | 0.942 | D | 0.739 | prob.delet. | N | 0.499008473 | None | None | N |
| V/G | 0.3397 | likely_benign | 0.318 | benign | -2.581 | Highly Destabilizing | 0.928 | D | 0.769 | deleterious | D | 0.551168633 | None | None | N |
| V/H | 0.6776 | likely_pathogenic | 0.6384 | pathogenic | -2.373 | Highly Destabilizing | 0.995 | D | 0.795 | deleterious | None | None | None | None | N |
| V/I | 0.078 | likely_benign | 0.0753 | benign | -0.808 | Destabilizing | 0.031 | N | 0.256 | neutral | N | 0.467143983 | None | None | N |
| V/K | 0.4787 | ambiguous | 0.5026 | ambiguous | -1.895 | Destabilizing | 0.945 | D | 0.747 | deleterious | None | None | None | None | N |
| V/L | 0.2651 | likely_benign | 0.2483 | benign | -0.808 | Destabilizing | 0.247 | N | 0.419 | neutral | D | 0.527885798 | None | None | N |
| V/M | 0.1553 | likely_benign | 0.1443 | benign | -0.585 | Destabilizing | 0.894 | D | 0.696 | prob.neutral | None | None | None | None | N |
| V/N | 0.5473 | ambiguous | 0.4934 | ambiguous | -2.047 | Highly Destabilizing | 0.981 | D | 0.799 | deleterious | None | None | None | None | N |
| V/P | 0.8576 | likely_pathogenic | 0.8039 | pathogenic | -1.216 | Destabilizing | 0.981 | D | 0.777 | deleterious | None | None | None | None | N |
| V/Q | 0.5012 | ambiguous | 0.5057 | ambiguous | -2.002 | Highly Destabilizing | 0.981 | D | 0.783 | deleterious | None | None | None | None | N |
| V/R | 0.3922 | ambiguous | 0.4228 | ambiguous | -1.556 | Destabilizing | 0.945 | D | 0.801 | deleterious | None | None | None | None | N |
| V/S | 0.3028 | likely_benign | 0.261 | benign | -2.553 | Highly Destabilizing | 0.945 | D | 0.74 | deleterious | None | None | None | None | N |
| V/T | 0.1631 | likely_benign | 0.1429 | benign | -2.266 | Highly Destabilizing | 0.707 | D | 0.585 | neutral | None | None | None | None | N |
| V/W | 0.7627 | likely_pathogenic | 0.718 | pathogenic | -1.954 | Destabilizing | 0.995 | D | 0.769 | deleterious | None | None | None | None | N |
| V/Y | 0.5516 | ambiguous | 0.4999 | ambiguous | -1.582 | Destabilizing | 0.945 | D | 0.751 | deleterious | 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.