Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29006 | 87241;87242;87243 | chr2:178558443;178558442;178558441 | chr2:179423170;179423169;179423168 |
| N2AB | 27365 | 82318;82319;82320 | chr2:178558443;178558442;178558441 | chr2:179423170;179423169;179423168 |
| N2A | 26438 | 79537;79538;79539 | chr2:178558443;178558442;178558441 | chr2:179423170;179423169;179423168 |
| N2B | 19941 | 60046;60047;60048 | chr2:178558443;178558442;178558441 | chr2:179423170;179423169;179423168 |
| Novex-1 | 20066 | 60421;60422;60423 | chr2:178558443;178558442;178558441 | chr2:179423170;179423169;179423168 |
| Novex-2 | 20133 | 60622;60623;60624 | chr2:178558443;178558442;178558441 | chr2:179423170;179423169;179423168 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs1355128934  |
-0.331 | 0.822 | N | 0.589 | 0.274 | 0.293502639404 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/T | rs1355128934 |
-0.331 | 0.822 | N | 0.589 | 0.274 | 0.293502639404 | gnomAD-4.0.0 | 6.36529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29849E-05 | 3.02444E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.259 | likely_benign | 0.264 | benign | -0.25 | Destabilizing | 0.559 | D | 0.527 | neutral | None | None | None | None | N |
| R/C | 0.1563 | likely_benign | 0.161 | benign | -0.43 | Destabilizing | 0.998 | D | 0.622 | neutral | None | None | None | None | N |
| R/D | 0.5586 | ambiguous | 0.5852 | pathogenic | -0.046 | Destabilizing | 0.956 | D | 0.521 | neutral | None | None | None | None | N |
| R/E | 0.2653 | likely_benign | 0.2764 | benign | 0.055 | Stabilizing | 0.754 | D | 0.48 | neutral | None | None | None | None | N |
| R/F | 0.4425 | ambiguous | 0.4738 | ambiguous | -0.396 | Destabilizing | 0.993 | D | 0.598 | neutral | None | None | None | None | N |
| R/G | 0.1916 | likely_benign | 0.197 | benign | -0.478 | Destabilizing | 0.822 | D | 0.548 | neutral | N | 0.490780167 | None | None | N |
| R/H | 0.097 | likely_benign | 0.0993 | benign | -1.065 | Destabilizing | 0.978 | D | 0.519 | neutral | None | None | None | None | N |
| R/I | 0.2055 | likely_benign | 0.215 | benign | 0.327 | Stabilizing | 0.97 | D | 0.607 | neutral | N | 0.427766371 | None | None | N |
| R/K | 0.0701 | likely_benign | 0.0664 | benign | -0.212 | Destabilizing | 0.006 | N | 0.137 | neutral | N | 0.437017785 | None | None | N |
| R/L | 0.1798 | likely_benign | 0.188 | benign | 0.327 | Stabilizing | 0.86 | D | 0.548 | neutral | None | None | None | None | N |
| R/M | 0.1935 | likely_benign | 0.2015 | benign | -0.191 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | None | N |
| R/N | 0.4224 | ambiguous | 0.4395 | ambiguous | -0.099 | Destabilizing | 0.86 | D | 0.533 | neutral | None | None | None | None | N |
| R/P | 0.4645 | ambiguous | 0.4885 | ambiguous | 0.155 | Stabilizing | 0.978 | D | 0.589 | neutral | None | None | None | None | N |
| R/Q | 0.0863 | likely_benign | 0.0891 | benign | -0.124 | Destabilizing | 0.86 | D | 0.562 | neutral | None | None | None | None | N |
| R/S | 0.3463 | ambiguous | 0.3583 | ambiguous | -0.535 | Destabilizing | 0.822 | D | 0.553 | neutral | N | 0.432017397 | None | None | N |
| R/T | 0.1514 | likely_benign | 0.1628 | benign | -0.271 | Destabilizing | 0.822 | D | 0.589 | neutral | N | 0.421088328 | None | None | N |
| R/V | 0.2425 | likely_benign | 0.2505 | benign | 0.155 | Stabilizing | 0.956 | D | 0.533 | neutral | None | None | None | None | N |
| R/W | 0.1519 | likely_benign | 0.1772 | benign | -0.405 | Destabilizing | 0.998 | D | 0.666 | neutral | None | None | None | None | N |
| R/Y | 0.3232 | likely_benign | 0.3466 | ambiguous | -0.012 | Destabilizing | 0.993 | D | 0.597 | 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.