Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25448 | 76567;76568;76569 | chr2:178569790;178569789;178569788 | chr2:179434517;179434516;179434515 |
| N2AB | 23807 | 71644;71645;71646 | chr2:178569790;178569789;178569788 | chr2:179434517;179434516;179434515 |
| N2A | 22880 | 68863;68864;68865 | chr2:178569790;178569789;178569788 | chr2:179434517;179434516;179434515 |
| N2B | 16383 | 49372;49373;49374 | chr2:178569790;178569789;178569788 | chr2:179434517;179434516;179434515 |
| Novex-1 | 16508 | 49747;49748;49749 | chr2:178569790;178569789;178569788 | chr2:179434517;179434516;179434515 |
| Novex-2 | 16575 | 49948;49949;49950 | chr2:178569790;178569789;178569788 | chr2:179434517;179434516;179434515 |
| 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/N | rs3813243  |
0.036 | 0.684 | N | 0.297 | 0.154 | None | gnomAD-2.1.1 | 4.17349E-02 | None | None | None | None | N | None | 7.09147E-02 | 3.15879E-02 | None | 4.23204E-02 | 1.79369E-01 | None | 4.97351E-02 | None | 1.95338E-02 | 2.06055E-02 | 3.87858E-02 |
| S/N | rs3813243 |
0.036 | 0.684 | N | 0.297 | 0.154 | None | gnomAD-3.1.2 | 4.25921E-02 | None | None | None | None | N | None | 7.06007E-02 | 3.91179E-02 | 8.77193E-03 | 4.23631E-02 | 1.67184E-01 | None | 1.92018E-02 | 5.6962E-02 | 2.01548E-02 | 4.77972E-02 | 5.55024E-02 |
| S/N | rs3813243 |
0.036 | 0.684 | N | 0.297 | 0.154 | None | 1000 genomes | 7.92732E-02 | None | None | None | None | N | None | 8.55E-02 | 4.18E-02 | None | None | 1.736E-01 | 3.28E-02 | None | None | None | 4.81E-02 | None |
| S/N | rs3813243 |
0.036 | 0.684 | N | 0.297 | 0.154 | None | gnomAD-4.0.0 | 3.04797E-02 | None | None | None | None | N | None | 7.07294E-02 | 3.47375E-02 | None | 4.28243E-02 | 1.79488E-01 | None | 1.80585E-02 | 9.45455E-02 | 2.02603E-02 | 4.91223E-02 | 3.79935E-02 |
| S/R | rs763099701 |
0.096 | 0.939 | N | 0.347 | 0.258 | 0.247322355667 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| S/R | rs763099701 |
0.096 | 0.939 | N | 0.347 | 0.258 | 0.247322355667 | gnomAD-4.0.0 | 2.73757E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 2.31932E-05 | 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 | 0.072 | likely_benign | 0.0699 | benign | -0.189 | Destabilizing | 0.016 | N | 0.11 | neutral | None | None | None | None | N |
| S/C | 0.1298 | likely_benign | 0.1302 | benign | -0.335 | Destabilizing | 0.994 | D | 0.333 | neutral | N | 0.508522806 | None | None | N |
| S/D | 0.2309 | likely_benign | 0.2097 | benign | 0.057 | Stabilizing | 0.009 | N | 0.195 | neutral | None | None | None | None | N |
| S/E | 0.304 | likely_benign | 0.2965 | benign | -0.051 | Destabilizing | 0.59 | D | 0.312 | neutral | None | None | None | None | N |
| S/F | 0.2022 | likely_benign | 0.1836 | benign | -0.913 | Destabilizing | 0.984 | D | 0.378 | neutral | None | None | None | None | N |
| S/G | 0.088 | likely_benign | 0.0854 | benign | -0.242 | Destabilizing | 0.003 | N | 0.109 | neutral | N | 0.390980772 | None | None | N |
| S/H | 0.2805 | likely_benign | 0.2583 | benign | -0.574 | Destabilizing | 0.984 | D | 0.337 | neutral | None | None | None | None | N |
| S/I | 0.1698 | likely_benign | 0.1694 | benign | -0.183 | Destabilizing | 0.884 | D | 0.379 | neutral | N | 0.458908118 | None | None | N |
| S/K | 0.4362 | ambiguous | 0.4189 | ambiguous | -0.388 | Destabilizing | 0.742 | D | 0.277 | neutral | None | None | None | None | N |
| S/L | 0.097 | likely_benign | 0.0968 | benign | -0.183 | Destabilizing | 0.742 | D | 0.374 | neutral | None | None | None | None | N |
| S/M | 0.1739 | likely_benign | 0.1708 | benign | -0.121 | Destabilizing | 0.984 | D | 0.337 | neutral | None | None | None | None | N |
| S/N | 0.1087 | likely_benign | 0.1104 | benign | -0.137 | Destabilizing | 0.684 | D | 0.297 | neutral | N | 0.435715772 | None | None | N |
| S/P | 0.235 | likely_benign | 0.2161 | benign | -0.16 | Destabilizing | 0.854 | D | 0.365 | neutral | None | None | None | None | N |
| S/Q | 0.3808 | ambiguous | 0.3673 | ambiguous | -0.369 | Destabilizing | 0.953 | D | 0.299 | neutral | None | None | None | None | N |
| S/R | 0.3992 | ambiguous | 0.3839 | ambiguous | -0.124 | Destabilizing | 0.939 | D | 0.347 | neutral | N | 0.455131039 | None | None | N |
| S/T | 0.0692 | likely_benign | 0.0695 | benign | -0.251 | Destabilizing | 0.028 | N | 0.177 | neutral | N | 0.438084073 | None | None | N |
| S/V | 0.1661 | likely_benign | 0.1666 | benign | -0.16 | Destabilizing | 0.742 | D | 0.371 | neutral | None | None | None | None | N |
| S/W | 0.3697 | ambiguous | 0.3298 | benign | -0.988 | Destabilizing | 0.996 | D | 0.403 | neutral | None | None | None | None | N |
| S/Y | 0.197 | likely_benign | 0.1851 | benign | -0.675 | Destabilizing | 0.984 | D | 0.383 | 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.