Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31774 | 95545;95546;95547 | chr2:178545916;178545915;178545914 | chr2:179410643;179410642;179410641 |
| N2AB | 30133 | 90622;90623;90624 | chr2:178545916;178545915;178545914 | chr2:179410643;179410642;179410641 |
| N2A | 29206 | 87841;87842;87843 | chr2:178545916;178545915;178545914 | chr2:179410643;179410642;179410641 |
| N2B | 22709 | 68350;68351;68352 | chr2:178545916;178545915;178545914 | chr2:179410643;179410642;179410641 |
| Novex-1 | 22834 | 68725;68726;68727 | chr2:178545916;178545915;178545914 | chr2:179410643;179410642;179410641 |
| Novex-2 | 22901 | 68926;68927;68928 | chr2:178545916;178545915;178545914 | chr2:179410643;179410642;179410641 |
| 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 | rs762265902  |
0.029 | 0.999 | N | 0.675 | 0.402 | None | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.09443E-04 | 0 |
| K/E | rs762265902 |
0.029 | 0.999 | N | 0.675 | 0.402 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 1.32295E-04 | 0 | 0 |
| K/E | rs762265902 |
0.029 | 0.999 | N | 0.675 | 0.402 | None | gnomAD-4.0.0 | 1.07814E-04 | None | None | None | None | N | None | 3.99765E-05 | 0 | None | 3.37838E-05 | 2.22846E-05 | None | 0 | 0 | 1.40703E-04 | 0 | 4.80169E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3733 | ambiguous | 0.3518 | ambiguous | -0.168 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| K/C | 0.7334 | likely_pathogenic | 0.6957 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| K/D | 0.6847 | likely_pathogenic | 0.6658 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/E | 0.1923 | likely_benign | 0.1776 | benign | -0.084 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.403385214 | None | None | N |
| K/F | 0.8784 | likely_pathogenic | 0.8552 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| K/G | 0.5105 | ambiguous | 0.4914 | ambiguous | -0.441 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/H | 0.4096 | ambiguous | 0.3805 | ambiguous | -0.811 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/I | 0.4996 | ambiguous | 0.447 | ambiguous | 0.49 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/L | 0.507 | ambiguous | 0.4545 | ambiguous | 0.49 | Stabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/M | 0.3743 | ambiguous | 0.336 | benign | 0.424 | Stabilizing | 1.0 | D | 0.587 | neutral | N | 0.510515466 | None | None | N |
| K/N | 0.5433 | ambiguous | 0.525 | ambiguous | 0.018 | Stabilizing | 1.0 | D | 0.669 | neutral | N | 0.505146932 | None | None | N |
| K/P | 0.4302 | ambiguous | 0.4324 | ambiguous | 0.301 | Stabilizing | 1.0 | D | 0.604 | neutral | None | None | None | None | N |
| K/Q | 0.1263 | likely_benign | 0.1224 | benign | -0.193 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.454238109 | None | None | N |
| K/R | 0.0872 | likely_benign | 0.0852 | benign | -0.268 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.496970166 | None | None | N |
| K/S | 0.4815 | ambiguous | 0.4578 | ambiguous | -0.52 | Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | N |
| K/T | 0.2638 | likely_benign | 0.2417 | benign | -0.325 | Destabilizing | 1.0 | D | 0.623 | neutral | N | 0.512611622 | None | None | N |
| K/V | 0.4474 | ambiguous | 0.3971 | ambiguous | 0.301 | Stabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | N |
| K/W | 0.8495 | likely_pathogenic | 0.8258 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| K/Y | 0.7714 | likely_pathogenic | 0.744 | pathogenic | 0.208 | Stabilizing | 1.0 | D | 0.586 | 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.