Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28469 | 85630;85631;85632 | chr2:178560727;178560726;178560725 | chr2:179425454;179425453;179425452 |
| N2AB | 26828 | 80707;80708;80709 | chr2:178560727;178560726;178560725 | chr2:179425454;179425453;179425452 |
| N2A | 25901 | 77926;77927;77928 | chr2:178560727;178560726;178560725 | chr2:179425454;179425453;179425452 |
| N2B | 19404 | 58435;58436;58437 | chr2:178560727;178560726;178560725 | chr2:179425454;179425453;179425452 |
| Novex-1 | 19529 | 58810;58811;58812 | chr2:178560727;178560726;178560725 | chr2:179425454;179425453;179425452 |
| Novex-2 | 19596 | 59011;59012;59013 | chr2:178560727;178560726;178560725 | chr2:179425454;179425453;179425452 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs202040332  |
-0.694 | 0.994 | N | 0.52 | 0.273 | None | gnomAD-2.1.1 | 2.15129E-03 | None | None | None | None | N | None | 0 | 0 | None | 3.86772E-04 | 5.4107E-03 | None | 5.55665E-04 | None | 1.63344E-02 | 3.98687E-04 | 2.38965E-03 |
| S/C | rs202040332 |
-0.694 | 0.994 | N | 0.52 | 0.273 | None | gnomAD-3.1.2 | 1.42602E-03 | None | None | None | None | N | None | 0 | 0 | 0 | 5.76037E-04 | 3.47356E-03 | None | 1.67766E-02 | 0 | 2.20504E-04 | 8.27815E-04 | 0 |
| S/C | rs202040332 |
-0.694 | 0.994 | N | 0.52 | 0.273 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 1E-03 | None | None | None | 1E-03 | None |
| S/C | rs202040332 |
-0.694 | 0.994 | N | 0.52 | 0.273 | None | gnomAD-4.0.0 | 8.76862E-04 | None | None | None | None | N | None | 0 | 0 | None | 4.3916E-04 | 2.83634E-03 | None | 1.49321E-02 | 1.64962E-04 | 1.84777E-04 | 4.94082E-04 | 8.96344E-04 |
| S/P | None | None | 0.939 | N | 0.527 | 0.35 | 0.266843984389 | gnomAD-4.0.0 | 1.3685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79891E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1016 | likely_benign | 0.1011 | benign | -0.508 | Destabilizing | 0.309 | N | 0.379 | neutral | N | 0.435076345 | None | None | N |
| S/C | 0.072 | likely_benign | 0.0757 | benign | -0.391 | Destabilizing | 0.994 | D | 0.52 | neutral | N | 0.478136476 | None | None | N |
| S/D | 0.4709 | ambiguous | 0.423 | ambiguous | -0.769 | Destabilizing | 0.742 | D | 0.413 | neutral | None | None | None | None | N |
| S/E | 0.5268 | ambiguous | 0.4856 | ambiguous | -0.798 | Destabilizing | 0.742 | D | 0.424 | neutral | None | None | None | None | N |
| S/F | 0.1036 | likely_benign | 0.0957 | benign | -0.871 | Destabilizing | 0.939 | D | 0.593 | neutral | N | 0.474557453 | None | None | N |
| S/G | 0.145 | likely_benign | 0.1414 | benign | -0.721 | Destabilizing | 0.543 | D | 0.413 | neutral | None | None | None | None | N |
| S/H | 0.1941 | likely_benign | 0.1786 | benign | -1.343 | Destabilizing | 0.02 | N | 0.348 | neutral | None | None | None | None | N |
| S/I | 0.0937 | likely_benign | 0.09 | benign | -0.056 | Destabilizing | 0.91 | D | 0.591 | neutral | None | None | None | None | N |
| S/K | 0.6076 | likely_pathogenic | 0.5472 | ambiguous | -0.727 | Destabilizing | 0.742 | D | 0.423 | neutral | None | None | None | None | N |
| S/L | 0.0771 | likely_benign | 0.0755 | benign | -0.056 | Destabilizing | 0.59 | D | 0.52 | neutral | None | None | None | None | N |
| S/M | 0.1553 | likely_benign | 0.1523 | benign | 0.391 | Stabilizing | 0.984 | D | 0.525 | neutral | None | None | None | None | N |
| S/N | 0.13 | likely_benign | 0.1197 | benign | -0.699 | Destabilizing | 0.742 | D | 0.456 | neutral | None | None | None | None | N |
| S/P | 0.7262 | likely_pathogenic | 0.731 | pathogenic | -0.174 | Destabilizing | 0.939 | D | 0.527 | neutral | N | 0.515134639 | None | None | N |
| S/Q | 0.3964 | ambiguous | 0.3708 | ambiguous | -0.957 | Destabilizing | 0.91 | D | 0.466 | neutral | None | None | None | None | N |
| S/R | 0.4766 | ambiguous | 0.4193 | ambiguous | -0.536 | Destabilizing | 0.91 | D | 0.519 | neutral | None | None | None | None | N |
| S/T | 0.0646 | likely_benign | 0.0655 | benign | -0.648 | Destabilizing | 0.001 | N | 0.256 | neutral | N | 0.326156582 | None | None | N |
| S/V | 0.1136 | likely_benign | 0.112 | benign | -0.174 | Destabilizing | 0.59 | D | 0.513 | neutral | None | None | None | None | N |
| S/W | 0.1858 | likely_benign | 0.171 | benign | -0.893 | Destabilizing | 0.996 | D | 0.665 | neutral | None | None | None | None | N |
| S/Y | 0.0907 | likely_benign | 0.087 | benign | -0.599 | Destabilizing | 0.884 | D | 0.597 | neutral | N | 0.441965032 | 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.