Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7109 | 21550;21551;21552 | chr2:178723934;178723933;178723932 | chr2:179588661;179588660;179588659 |
| N2AB | 6792 | 20599;20600;20601 | chr2:178723934;178723933;178723932 | chr2:179588661;179588660;179588659 |
| N2A | 5865 | 17818;17819;17820 | chr2:178723934;178723933;178723932 | chr2:179588661;179588660;179588659 |
| 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/L | rs368530326  |
0.213 | 0.921 | N | 0.373 | 0.318 | None | 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/L | rs368530326 |
0.213 | 0.921 | N | 0.373 | 0.318 | None | gnomAD-4.0.0 | 3.49011E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49809E-05 | 0 | 1.65711E-05 |
| S/P | rs2078891499 |
None | 0.998 | N | 0.391 | 0.347 | 0.180583059064 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/P | rs2078891499 |
None | 0.998 | N | 0.391 | 0.347 | 0.180583059064 | gnomAD-4.0.0 | 2.56292E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39404E-06 | 0 | 2.8456E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0741 | likely_benign | 0.076 | benign | -0.229 | Destabilizing | 0.906 | D | 0.381 | neutral | N | 0.507869445 | None | None | N |
| S/C | 0.1444 | likely_benign | 0.1457 | benign | -0.047 | Destabilizing | 1.0 | D | 0.403 | neutral | None | None | None | None | N |
| S/D | 0.2557 | likely_benign | 0.2412 | benign | -0.108 | Destabilizing | 0.984 | D | 0.313 | neutral | None | None | None | None | N |
| S/E | 0.3541 | ambiguous | 0.3383 | benign | -0.22 | Destabilizing | 0.969 | D | 0.284 | neutral | None | None | None | None | N |
| S/F | 0.1528 | likely_benign | 0.1499 | benign | -0.923 | Destabilizing | 0.088 | N | 0.244 | neutral | None | None | None | None | N |
| S/G | 0.0853 | likely_benign | 0.0836 | benign | -0.298 | Destabilizing | 0.963 | D | 0.274 | neutral | None | None | None | None | N |
| S/H | 0.2737 | likely_benign | 0.2544 | benign | -0.715 | Destabilizing | 0.999 | D | 0.383 | neutral | None | None | None | None | N |
| S/I | 0.1654 | likely_benign | 0.1657 | benign | -0.175 | Destabilizing | 0.991 | D | 0.391 | neutral | None | None | None | None | N |
| S/K | 0.4437 | ambiguous | 0.4109 | ambiguous | -0.356 | Destabilizing | 0.148 | N | 0.095 | neutral | None | None | None | None | N |
| S/L | 0.089 | likely_benign | 0.0931 | benign | -0.175 | Destabilizing | 0.921 | D | 0.373 | neutral | N | 0.478661896 | None | None | N |
| S/M | 0.188 | likely_benign | 0.1852 | benign | 0.118 | Stabilizing | 0.999 | D | 0.381 | neutral | None | None | None | None | N |
| S/N | 0.1283 | likely_benign | 0.1201 | benign | 0.024 | Stabilizing | 0.984 | D | 0.357 | neutral | None | None | None | None | N |
| S/P | 0.2381 | likely_benign | 0.2549 | benign | -0.168 | Destabilizing | 0.998 | D | 0.391 | neutral | N | 0.505159941 | None | None | N |
| S/Q | 0.3927 | ambiguous | 0.3678 | ambiguous | -0.275 | Destabilizing | 0.991 | D | 0.346 | neutral | None | None | None | None | N |
| S/R | 0.3378 | likely_benign | 0.3092 | benign | -0.058 | Destabilizing | 0.939 | D | 0.387 | neutral | None | None | None | None | N |
| S/T | 0.0798 | likely_benign | 0.079 | benign | -0.093 | Destabilizing | 0.979 | D | 0.319 | neutral | N | 0.504983856 | None | None | N |
| S/V | 0.1607 | likely_benign | 0.164 | benign | -0.168 | Destabilizing | 0.969 | D | 0.402 | neutral | None | None | None | None | N |
| S/W | 0.2237 | likely_benign | 0.2148 | benign | -0.977 | Destabilizing | 1.0 | D | 0.458 | neutral | None | None | None | None | N |
| S/Y | 0.1662 | likely_benign | 0.1596 | benign | -0.682 | Destabilizing | 0.982 | D | 0.398 | 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.