Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29600 | 89023;89024;89025 | chr2:178554549;178554548;178554547 | chr2:179419276;179419275;179419274 |
| N2AB | 27959 | 84100;84101;84102 | chr2:178554549;178554548;178554547 | chr2:179419276;179419275;179419274 |
| N2A | 27032 | 81319;81320;81321 | chr2:178554549;178554548;178554547 | chr2:179419276;179419275;179419274 |
| N2B | 20535 | 61828;61829;61830 | chr2:178554549;178554548;178554547 | chr2:179419276;179419275;179419274 |
| Novex-1 | 20660 | 62203;62204;62205 | chr2:178554549;178554548;178554547 | chr2:179419276;179419275;179419274 |
| Novex-2 | 20727 | 62404;62405;62406 | chr2:178554549;178554548;178554547 | chr2:179419276;179419275;179419274 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/I | rs548209283  |
0.527 | 0.999 | N | 0.653 | 0.368 | 0.561867705733 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96066E-04 | None | 0 | 0 | 0 |
| K/I | rs548209283 |
0.527 | 0.999 | N | 0.653 | 0.368 | 0.561867705733 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| K/I | rs548209283 |
0.527 | 0.999 | N | 0.653 | 0.368 | 0.561867705733 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/I | rs548209283 |
0.527 | 0.999 | N | 0.653 | 0.368 | 0.561867705733 | gnomAD-4.0.0 | 1.15267E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.25225E-04 | 0 | 1.0721E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3812 | ambiguous | 0.3826 | ambiguous | -0.022 | Destabilizing | 0.992 | D | 0.527 | neutral | None | None | None | None | N |
| K/C | 0.7382 | likely_pathogenic | 0.7536 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/D | 0.7795 | likely_pathogenic | 0.764 | pathogenic | 0.042 | Stabilizing | 0.998 | D | 0.523 | neutral | None | None | None | None | N |
| K/E | 0.2406 | likely_benign | 0.2424 | benign | 0.053 | Stabilizing | 0.978 | D | 0.532 | neutral | N | 0.353553827 | None | None | N |
| K/F | 0.9047 | likely_pathogenic | 0.9154 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| K/G | 0.6056 | likely_pathogenic | 0.6141 | pathogenic | -0.236 | Destabilizing | 0.999 | D | 0.508 | neutral | None | None | None | None | N |
| K/H | 0.4126 | ambiguous | 0.4168 | ambiguous | -0.489 | Destabilizing | 1.0 | D | 0.509 | neutral | None | None | None | None | N |
| K/I | 0.5651 | likely_pathogenic | 0.5715 | pathogenic | 0.467 | Stabilizing | 0.999 | D | 0.653 | neutral | N | 0.43940473 | None | None | N |
| K/L | 0.5419 | ambiguous | 0.5525 | ambiguous | 0.467 | Stabilizing | 0.998 | D | 0.508 | neutral | None | None | None | None | N |
| K/M | 0.3994 | ambiguous | 0.3986 | ambiguous | 0.26 | Stabilizing | 1.0 | D | 0.509 | neutral | None | None | None | None | N |
| K/N | 0.6414 | likely_pathogenic | 0.6366 | pathogenic | 0.189 | Stabilizing | 0.998 | D | 0.58 | neutral | N | 0.424608635 | None | None | N |
| K/P | 0.5194 | ambiguous | 0.5079 | ambiguous | 0.333 | Stabilizing | 1.0 | D | 0.535 | neutral | None | None | None | None | N |
| K/Q | 0.1482 | likely_benign | 0.1564 | benign | 0.004 | Stabilizing | 0.775 | D | 0.225 | neutral | N | 0.359693152 | None | None | N |
| K/R | 0.0827 | likely_benign | 0.0865 | benign | -0.057 | Destabilizing | 0.989 | D | 0.556 | neutral | N | 0.420472252 | None | None | N |
| K/S | 0.5387 | ambiguous | 0.5376 | ambiguous | -0.316 | Destabilizing | 0.992 | D | 0.569 | neutral | None | None | None | None | N |
| K/T | 0.2643 | likely_benign | 0.2586 | benign | -0.152 | Destabilizing | 0.998 | D | 0.529 | neutral | N | 0.429918455 | None | None | N |
| K/V | 0.4874 | ambiguous | 0.495 | ambiguous | 0.333 | Stabilizing | 0.999 | D | 0.546 | neutral | None | None | None | None | N |
| K/W | 0.8649 | likely_pathogenic | 0.883 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8005 | likely_pathogenic | 0.8034 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.593 | 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.