Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24575 | 73948;73949;73950 | chr2:178572409;178572408;178572407 | chr2:179437136;179437135;179437134 |
| N2AB | 22934 | 69025;69026;69027 | chr2:178572409;178572408;178572407 | chr2:179437136;179437135;179437134 |
| N2A | 22007 | 66244;66245;66246 | chr2:178572409;178572408;178572407 | chr2:179437136;179437135;179437134 |
| N2B | 15510 | 46753;46754;46755 | chr2:178572409;178572408;178572407 | chr2:179437136;179437135;179437134 |
| Novex-1 | 15635 | 47128;47129;47130 | chr2:178572409;178572408;178572407 | chr2:179437136;179437135;179437134 |
| Novex-2 | 15702 | 47329;47330;47331 | chr2:178572409;178572408;178572407 | chr2:179437136;179437135;179437134 |
| 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/R | rs766059820  |
-0.017 | 0.997 | N | 0.546 | 0.267 | 0.380901646489 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs766059820 |
-0.017 | 0.997 | N | 0.546 | 0.267 | 0.380901646489 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs766059820 |
-0.017 | 0.997 | N | 0.546 | 0.267 | 0.380901646489 | gnomAD-4.0.0 | 3.84676E-06 | None | None | None | None | N | None | 0 | 5.08733E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8451 | likely_pathogenic | 0.8089 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| K/C | 0.9076 | likely_pathogenic | 0.8846 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| K/D | 0.9274 | likely_pathogenic | 0.9237 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| K/E | 0.7854 | likely_pathogenic | 0.7615 | pathogenic | 0.168 | Stabilizing | 0.998 | D | 0.604 | neutral | N | 0.49727681 | None | None | N |
| K/F | 0.9783 | likely_pathogenic | 0.9692 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| K/G | 0.8439 | likely_pathogenic | 0.8091 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | N |
| K/H | 0.6212 | likely_pathogenic | 0.5689 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| K/I | 0.9002 | likely_pathogenic | 0.867 | pathogenic | 0.465 | Stabilizing | 0.996 | D | 0.647 | neutral | None | None | None | None | N |
| K/L | 0.8434 | likely_pathogenic | 0.7986 | pathogenic | 0.465 | Stabilizing | 0.996 | D | 0.585 | neutral | None | None | None | None | N |
| K/M | 0.7846 | likely_pathogenic | 0.7365 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.633 | neutral | N | 0.474420204 | None | None | N |
| K/N | 0.8859 | likely_pathogenic | 0.8666 | pathogenic | -0.053 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.500103685 | None | None | N |
| K/P | 0.9786 | likely_pathogenic | 0.9682 | pathogenic | 0.289 | Stabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| K/Q | 0.4416 | ambiguous | 0.3868 | ambiguous | -0.088 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.491812275 | None | None | N |
| K/R | 0.1046 | likely_benign | 0.0933 | benign | -0.127 | Destabilizing | 0.997 | D | 0.546 | neutral | N | 0.447061421 | None | None | N |
| K/S | 0.8662 | likely_pathogenic | 0.8432 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| K/T | 0.7078 | likely_pathogenic | 0.6577 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.488577182 | None | None | N |
| K/V | 0.8561 | likely_pathogenic | 0.8115 | pathogenic | 0.289 | Stabilizing | 0.997 | D | 0.607 | neutral | None | None | None | None | N |
| K/W | 0.9602 | likely_pathogenic | 0.9456 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| K/Y | 0.9273 | likely_pathogenic | 0.91 | pathogenic | 0.151 | Stabilizing | 0.999 | D | 0.613 | 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.