Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5304 | 16135;16136;16137 | chr2:178733383;178733382;178733381 | chr2:179598110;179598109;179598108 |
| N2AB | 4987 | 15184;15185;15186 | chr2:178733383;178733382;178733381 | chr2:179598110;179598109;179598108 |
| N2A | 4060 | 12403;12404;12405 | chr2:178733383;178733382;178733381 | chr2:179598110;179598109;179598108 |
| 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 | None | None | 0.002 | N | 0.15 | 0.158 | 0.0846915920261 | 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 |
| S/N | rs1560825296  |
None | 0.012 | N | 0.243 | 0.132 | 0.104622674875 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/N | rs1560825296 |
None | 0.012 | N | 0.243 | 0.132 | 0.104622674875 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79896E-06 | 0 | 0 |
| S/T | None | None | 0.801 | N | 0.411 | 0.18 | 0.148003135375 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 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 | 0.1752 | likely_benign | 0.1911 | benign | -0.249 | Destabilizing | 0.525 | D | 0.365 | neutral | None | None | None | None | N |
| S/C | 0.2662 | likely_benign | 0.2369 | benign | -0.345 | Destabilizing | 0.997 | D | 0.321 | neutral | D | 0.64160234 | None | None | N |
| S/D | 0.6712 | likely_pathogenic | 0.6481 | pathogenic | 0.409 | Stabilizing | 0.728 | D | 0.357 | neutral | None | None | None | None | N |
| S/E | 0.8735 | likely_pathogenic | 0.889 | pathogenic | 0.369 | Stabilizing | 0.842 | D | 0.359 | neutral | None | None | None | None | N |
| S/F | 0.7192 | likely_pathogenic | 0.7336 | pathogenic | -0.71 | Destabilizing | 0.991 | D | 0.369 | neutral | None | None | None | None | N |
| S/G | 0.1037 | likely_benign | 0.1033 | benign | -0.411 | Destabilizing | 0.002 | N | 0.15 | neutral | N | 0.427338836 | None | None | N |
| S/H | 0.7556 | likely_pathogenic | 0.7409 | pathogenic | -0.718 | Destabilizing | 0.974 | D | 0.298 | neutral | None | None | None | None | N |
| S/I | 0.6833 | likely_pathogenic | 0.6564 | pathogenic | 0.054 | Stabilizing | 0.966 | D | 0.388 | neutral | N | 0.506478203 | None | None | N |
| S/K | 0.9596 | likely_pathogenic | 0.958 | pathogenic | -0.32 | Destabilizing | 0.842 | D | 0.359 | neutral | None | None | None | None | N |
| S/L | 0.3277 | likely_benign | 0.3445 | ambiguous | 0.054 | Stabilizing | 0.915 | D | 0.357 | neutral | None | None | None | None | N |
| S/M | 0.555 | ambiguous | 0.5588 | ambiguous | -0.101 | Destabilizing | 0.998 | D | 0.299 | neutral | None | None | None | None | N |
| S/N | 0.3035 | likely_benign | 0.2458 | benign | -0.234 | Destabilizing | 0.012 | N | 0.243 | neutral | N | 0.452538051 | None | None | N |
| S/P | 0.8556 | likely_pathogenic | 0.8551 | pathogenic | -0.015 | Destabilizing | 0.991 | D | 0.307 | neutral | None | None | None | None | N |
| S/Q | 0.8633 | likely_pathogenic | 0.8691 | pathogenic | -0.325 | Destabilizing | 0.974 | D | 0.359 | neutral | None | None | None | None | N |
| S/R | 0.933 | likely_pathogenic | 0.9321 | pathogenic | -0.176 | Destabilizing | 0.934 | D | 0.311 | neutral | N | 0.481612596 | None | None | N |
| S/T | 0.1472 | likely_benign | 0.1485 | benign | -0.28 | Destabilizing | 0.801 | D | 0.411 | neutral | N | 0.444866789 | None | None | N |
| S/V | 0.5999 | likely_pathogenic | 0.5989 | pathogenic | -0.015 | Destabilizing | 0.974 | D | 0.382 | neutral | None | None | None | None | N |
| S/W | 0.7773 | likely_pathogenic | 0.7978 | pathogenic | -0.799 | Destabilizing | 0.998 | D | 0.48 | neutral | None | None | None | None | N |
| S/Y | 0.6552 | likely_pathogenic | 0.6486 | pathogenic | -0.464 | Destabilizing | 0.991 | D | 0.371 | 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.