Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7086 | 21481;21482;21483 | chr2:178724003;178724002;178724001 | chr2:179588730;179588729;179588728 |
| N2AB | 6769 | 20530;20531;20532 | chr2:178724003;178724002;178724001 | chr2:179588730;179588729;179588728 |
| N2A | 5842 | 17749;17750;17751 | chr2:178724003;178724002;178724001 | chr2:179588730;179588729;179588728 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs777135698  |
0.083 | 0.98 | N | 0.312 | 0.405 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| S/G | rs777135698 |
0.083 | 0.98 | N | 0.312 | 0.405 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/G | rs777135698 |
0.083 | 0.98 | N | 0.312 | 0.405 | None | gnomAD-4.0.0 | 3.71864E-06 | None | None | None | None | N | None | 4.00459E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54315E-06 | 0 | 0 |
| S/I | None | None | 0.606 | N | 0.279 | 0.366 | 0.616972202741 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.0836 | likely_benign | 0.083 | benign | -0.238 | Destabilizing | 0.469 | N | 0.201 | neutral | None | None | None | None | N |
| S/C | 0.1996 | likely_benign | 0.2111 | benign | -0.32 | Destabilizing | 1.0 | D | 0.392 | neutral | D | 0.552343494 | None | None | N |
| S/D | 0.3739 | ambiguous | 0.4315 | ambiguous | 0.199 | Stabilizing | 0.993 | D | 0.303 | neutral | None | None | None | None | N |
| S/E | 0.486 | ambiguous | 0.5617 | ambiguous | 0.093 | Stabilizing | 0.993 | D | 0.313 | neutral | None | None | None | None | N |
| S/F | 0.2622 | likely_benign | 0.2876 | benign | -0.952 | Destabilizing | 0.998 | D | 0.473 | neutral | None | None | None | None | N |
| S/G | 0.117 | likely_benign | 0.1156 | benign | -0.299 | Destabilizing | 0.98 | D | 0.312 | neutral | N | 0.502118879 | None | None | N |
| S/H | 0.4301 | ambiguous | 0.4803 | ambiguous | -0.734 | Destabilizing | 1.0 | D | 0.399 | neutral | None | None | None | None | N |
| S/I | 0.2605 | likely_benign | 0.3053 | benign | -0.212 | Destabilizing | 0.606 | D | 0.279 | neutral | N | 0.505259204 | None | None | N |
| S/K | 0.6878 | likely_pathogenic | 0.7515 | pathogenic | -0.351 | Destabilizing | 0.993 | D | 0.309 | neutral | None | None | None | None | N |
| S/L | 0.1231 | likely_benign | 0.1264 | benign | -0.212 | Destabilizing | 0.971 | D | 0.39 | neutral | None | None | None | None | N |
| S/M | 0.2934 | likely_benign | 0.3032 | benign | -0.098 | Destabilizing | 0.998 | D | 0.377 | neutral | None | None | None | None | N |
| S/N | 0.1933 | likely_benign | 0.2053 | benign | -0.108 | Destabilizing | 0.99 | D | 0.353 | neutral | D | 0.532022181 | None | None | N |
| S/P | 0.0934 | likely_benign | 0.0929 | benign | -0.195 | Destabilizing | 0.998 | D | 0.359 | neutral | None | None | None | None | N |
| S/Q | 0.5504 | ambiguous | 0.5997 | pathogenic | -0.338 | Destabilizing | 0.999 | D | 0.326 | neutral | None | None | None | None | N |
| S/R | 0.5992 | likely_pathogenic | 0.6628 | pathogenic | -0.156 | Destabilizing | 0.997 | D | 0.361 | neutral | N | 0.487951417 | None | None | N |
| S/T | 0.1009 | likely_benign | 0.0981 | benign | -0.221 | Destabilizing | 0.4 | N | 0.195 | neutral | N | 0.514975216 | None | None | N |
| S/V | 0.2614 | likely_benign | 0.2792 | benign | -0.195 | Destabilizing | 0.971 | D | 0.391 | neutral | None | None | None | None | N |
| S/W | 0.3505 | ambiguous | 0.3846 | ambiguous | -1.005 | Destabilizing | 1.0 | D | 0.577 | neutral | None | None | None | None | N |
| S/Y | 0.2298 | likely_benign | 0.2658 | benign | -0.695 | Destabilizing | 0.999 | D | 0.48 | 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.