Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22885 | 68878;68879;68880 | chr2:178577773;178577772;178577771 | chr2:179442500;179442499;179442498 |
| N2AB | 21244 | 63955;63956;63957 | chr2:178577773;178577772;178577771 | chr2:179442500;179442499;179442498 |
| N2A | 20317 | 61174;61175;61176 | chr2:178577773;178577772;178577771 | chr2:179442500;179442499;179442498 |
| N2B | 13820 | 41683;41684;41685 | chr2:178577773;178577772;178577771 | chr2:179442500;179442499;179442498 |
| Novex-1 | 13945 | 42058;42059;42060 | chr2:178577773;178577772;178577771 | chr2:179442500;179442499;179442498 |
| Novex-2 | 14012 | 42259;42260;42261 | chr2:178577773;178577772;178577771 | chr2:179442500;179442499;179442498 |
| 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/L | rs376574861  |
-0.31 | 0.859 | N | 0.366 | 0.227 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 8.94E-06 | 0 |
| S/L | rs376574861 |
-0.31 | 0.859 | N | 0.366 | 0.227 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| S/L | rs376574861 |
-0.31 | 0.859 | N | 0.366 | 0.227 | None | gnomAD-4.0.0 | 9.91869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93444E-06 | 9.88555E-05 | 0 |
| S/W | None | None | 0.998 | N | 0.477 | 0.276 | 0.547935346631 | gnomAD-4.0.0 | 6.84426E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15993E-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 | 0.0774 | likely_benign | 0.0737 | benign | -0.368 | Destabilizing | 0.003 | N | 0.137 | neutral | N | 0.463167024 | None | None | N |
| S/C | 0.1219 | likely_benign | 0.1238 | benign | -0.335 | Destabilizing | 0.987 | D | 0.386 | neutral | None | None | None | None | N |
| S/D | 0.3347 | likely_benign | 0.3281 | benign | 0.184 | Stabilizing | 0.742 | D | 0.357 | neutral | None | None | None | None | N |
| S/E | 0.4244 | ambiguous | 0.4037 | ambiguous | 0.092 | Stabilizing | 0.59 | D | 0.356 | neutral | None | None | None | None | N |
| S/F | 0.2417 | likely_benign | 0.224 | benign | -0.909 | Destabilizing | 0.953 | D | 0.433 | neutral | None | None | None | None | N |
| S/G | 0.074 | likely_benign | 0.0731 | benign | -0.484 | Destabilizing | 0.001 | N | 0.14 | neutral | None | None | None | None | N |
| S/H | 0.339 | likely_benign | 0.3389 | benign | -0.932 | Destabilizing | 0.984 | D | 0.388 | neutral | None | None | None | None | N |
| S/I | 0.2158 | likely_benign | 0.2114 | benign | -0.192 | Destabilizing | 0.91 | D | 0.417 | neutral | None | None | None | None | N |
| S/K | 0.5726 | likely_pathogenic | 0.5698 | pathogenic | -0.542 | Destabilizing | 0.009 | N | 0.219 | neutral | None | None | None | None | N |
| S/L | 0.1055 | likely_benign | 0.1054 | benign | -0.192 | Destabilizing | 0.859 | D | 0.366 | neutral | N | 0.496033633 | None | None | N |
| S/M | 0.1917 | likely_benign | 0.1923 | benign | -0.018 | Destabilizing | 0.984 | D | 0.387 | neutral | None | None | None | None | N |
| S/N | 0.1208 | likely_benign | 0.1261 | benign | -0.246 | Destabilizing | 0.742 | D | 0.392 | neutral | None | None | None | None | N |
| S/P | 0.4475 | ambiguous | 0.4373 | ambiguous | -0.221 | Destabilizing | 0.939 | D | 0.427 | neutral | N | 0.521945968 | None | None | N |
| S/Q | 0.3961 | ambiguous | 0.3946 | ambiguous | -0.485 | Destabilizing | 0.91 | D | 0.421 | neutral | None | None | None | None | N |
| S/R | 0.5388 | ambiguous | 0.5274 | ambiguous | -0.321 | Destabilizing | 0.59 | D | 0.387 | neutral | None | None | None | None | N |
| S/T | 0.0879 | likely_benign | 0.0878 | benign | -0.367 | Destabilizing | 0.684 | D | 0.417 | neutral | N | 0.469303562 | None | None | N |
| S/V | 0.1817 | likely_benign | 0.1748 | benign | -0.221 | Destabilizing | 0.59 | D | 0.352 | neutral | None | None | None | None | N |
| S/W | 0.4078 | ambiguous | 0.3899 | ambiguous | -0.915 | Destabilizing | 0.998 | D | 0.477 | neutral | N | 0.470803034 | None | None | N |
| S/Y | 0.2192 | likely_benign | 0.208 | benign | -0.643 | Destabilizing | 0.984 | D | 0.432 | 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.