Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15556 | 46891;46892;46893 | chr2:178619651;178619650;178619649 | chr2:179484378;179484377;179484376 |
| N2AB | 13915 | 41968;41969;41970 | chr2:178619651;178619650;178619649 | chr2:179484378;179484377;179484376 |
| N2A | 12988 | 39187;39188;39189 | chr2:178619651;178619650;178619649 | chr2:179484378;179484377;179484376 |
| N2B | 6491 | 19696;19697;19698 | chr2:178619651;178619650;178619649 | chr2:179484378;179484377;179484376 |
| Novex-1 | 6616 | 20071;20072;20073 | chr2:178619651;178619650;178619649 | chr2:179484378;179484377;179484376 |
| Novex-2 | 6683 | 20272;20273;20274 | chr2:178619651;178619650;178619649 | chr2:179484378;179484377;179484376 |
| 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/E | rs747614888  |
0.257 | 0.999 | N | 0.607 | 0.383 | 0.467585353272 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/E | rs747614888 |
0.257 | 0.999 | N | 0.607 | 0.383 | 0.467585353272 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/E | rs747614888 |
0.257 | 0.999 | N | 0.607 | 0.383 | 0.467585353272 | gnomAD-4.0.0 | 8.68537E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18767E-05 | 0 | 0 |
| K/R | None | None | 0.999 | N | 0.555 | 0.277 | 0.418964662724 | gnomAD-4.0.0 | 1.59509E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86548E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7136 | likely_pathogenic | 0.7168 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| K/C | 0.8338 | likely_pathogenic | 0.8293 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| K/D | 0.9375 | likely_pathogenic | 0.9345 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| K/E | 0.4756 | ambiguous | 0.5232 | ambiguous | -0.011 | Destabilizing | 0.999 | D | 0.607 | neutral | N | 0.498904921 | None | None | N |
| K/F | 0.9517 | likely_pathogenic | 0.9476 | pathogenic | -0.018 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| K/G | 0.8493 | likely_pathogenic | 0.8377 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| K/H | 0.5893 | likely_pathogenic | 0.5588 | ambiguous | -1.034 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| K/I | 0.6384 | likely_pathogenic | 0.6592 | pathogenic | 0.564 | Stabilizing | 1.0 | D | 0.806 | deleterious | N | 0.515238233 | None | None | N |
| K/L | 0.7021 | likely_pathogenic | 0.6872 | pathogenic | 0.564 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| K/M | 0.4902 | ambiguous | 0.5214 | ambiguous | 0.27 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/N | 0.8351 | likely_pathogenic | 0.8283 | pathogenic | -0.347 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.509155422 | None | None | N |
| K/P | 0.9923 | likely_pathogenic | 0.9939 | pathogenic | 0.297 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/Q | 0.2501 | likely_benign | 0.258 | benign | -0.361 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.479848711 | None | None | N |
| K/R | 0.1054 | likely_benign | 0.102 | benign | -0.627 | Destabilizing | 0.999 | D | 0.555 | neutral | N | 0.508019208 | None | None | N |
| K/S | 0.8067 | likely_pathogenic | 0.8003 | pathogenic | -0.867 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| K/T | 0.4319 | ambiguous | 0.466 | ambiguous | -0.575 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.513504287 | None | None | N |
| K/V | 0.537 | ambiguous | 0.5632 | ambiguous | 0.297 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| K/W | 0.942 | likely_pathogenic | 0.938 | pathogenic | 0.019 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| K/Y | 0.8821 | likely_pathogenic | 0.8772 | pathogenic | 0.3 | Stabilizing | 1.0 | D | 0.763 | 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.