Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19170 | 57733;57734;57735 | chr2:178597574;178597573;178597572 | chr2:179462301;179462300;179462299 |
| N2AB | 17529 | 52810;52811;52812 | chr2:178597574;178597573;178597572 | chr2:179462301;179462300;179462299 |
| N2A | 16602 | 50029;50030;50031 | chr2:178597574;178597573;178597572 | chr2:179462301;179462300;179462299 |
| N2B | 10105 | 30538;30539;30540 | chr2:178597574;178597573;178597572 | chr2:179462301;179462300;179462299 |
| Novex-1 | 10230 | 30913;30914;30915 | chr2:178597574;178597573;178597572 | chr2:179462301;179462300;179462299 |
| Novex-2 | 10297 | 31114;31115;31116 | chr2:178597574;178597573;178597572 | chr2:179462301;179462300;179462299 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs750947988  |
-0.217 | 1.0 | D | 0.897 | 0.644 | 0.624805822903 | gnomAD-2.1.1 | 4.31E-05 | None | None | None | None | I | None | 0 | 1.99317E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 4.23729E-04 |
| G/R | rs750947988 |
-0.217 | 1.0 | D | 0.897 | 0.644 | 0.624805822903 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 1.31234E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs750947988 |
-0.217 | 1.0 | D | 0.897 | 0.644 | 0.624805822903 | gnomAD-4.0.0 | 3.10093E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39155E-06 | 0 | 1.60282E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.532 | ambiguous | 0.5692 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.603854473 | None | None | I |
| G/C | 0.745 | likely_pathogenic | 0.7897 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/D | 0.8382 | likely_pathogenic | 0.8604 | pathogenic | -0.834 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/E | 0.8434 | likely_pathogenic | 0.8575 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.558351564 | None | None | I |
| G/F | 0.9549 | likely_pathogenic | 0.9665 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/H | 0.9213 | likely_pathogenic | 0.9441 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/I | 0.9392 | likely_pathogenic | 0.9495 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/K | 0.8513 | likely_pathogenic | 0.8905 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/L | 0.9122 | likely_pathogenic | 0.9315 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/M | 0.925 | likely_pathogenic | 0.9438 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/N | 0.8376 | likely_pathogenic | 0.867 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9963 | likely_pathogenic | 0.9964 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/Q | 0.817 | likely_pathogenic | 0.8531 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/R | 0.7544 | likely_pathogenic | 0.8061 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.620075638 | None | None | I |
| G/S | 0.3829 | ambiguous | 0.4304 | ambiguous | -0.6 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/T | 0.7342 | likely_pathogenic | 0.766 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/V | 0.8617 | likely_pathogenic | 0.883 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.620681051 | None | None | I |
| G/W | 0.9299 | likely_pathogenic | 0.9473 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/Y | 0.9388 | likely_pathogenic | 0.9528 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
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.