Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8958 | 27097;27098;27099 | chr2:178713262;178713261;178713260 | chr2:179577989;179577988;179577987 |
| N2AB | 8641 | 26146;26147;26148 | chr2:178713262;178713261;178713260 | chr2:179577989;179577988;179577987 |
| N2A | 7714 | 23365;23366;23367 | chr2:178713262;178713261;178713260 | chr2:179577989;179577988;179577987 |
| 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/F | rs751670561  |
-0.413 | 0.188 | N | 0.597 | 0.277 | 0.619456947012 | gnomAD-2.1.1 | 1.63E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.25378E-04 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs751670561 |
-0.413 | 0.188 | N | 0.597 | 0.277 | 0.619456947012 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs751670561 |
-0.413 | 0.188 | N | 0.597 | 0.277 | 0.619456947012 | gnomAD-4.0.0 | 6.20299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.33887E-04 | None | 0 | 0 | 3.39262E-06 | 0 | 0 |
| S/P | rs886038913 |
None | 0.484 | N | 0.545 | 0.567 | 0.321393169273 | 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 | rs886038913 |
None | 0.484 | N | 0.545 | 0.567 | 0.321393169273 | gnomAD-4.0.0 | 6.57281E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 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 | 0.0774 | likely_benign | 0.0783 | benign | -0.665 | Destabilizing | 0.002 | N | 0.229 | neutral | N | 0.512436343 | None | None | N |
| S/C | 0.1223 | likely_benign | 0.1299 | benign | -0.185 | Destabilizing | 0.78 | D | 0.521 | neutral | N | 0.490904386 | None | None | N |
| S/D | 0.3472 | ambiguous | 0.4433 | ambiguous | -0.274 | Destabilizing | 0.149 | N | 0.493 | neutral | None | None | None | None | N |
| S/E | 0.4226 | ambiguous | 0.4737 | ambiguous | -0.17 | Destabilizing | 0.149 | N | 0.488 | neutral | None | None | None | None | N |
| S/F | 0.1563 | likely_benign | 0.1744 | benign | -0.609 | Destabilizing | 0.188 | N | 0.597 | neutral | N | 0.501336702 | None | None | N |
| S/G | 0.1041 | likely_benign | 0.1172 | benign | -1.01 | Destabilizing | 0.149 | N | 0.504 | neutral | None | None | None | None | N |
| S/H | 0.2239 | likely_benign | 0.2415 | benign | -1.335 | Destabilizing | 0.935 | D | 0.522 | neutral | None | None | None | None | N |
| S/I | 0.1469 | likely_benign | 0.1664 | benign | 0.181 | Stabilizing | 0.081 | N | 0.577 | neutral | None | None | None | None | N |
| S/K | 0.3738 | ambiguous | 0.4291 | ambiguous | -0.181 | Destabilizing | 0.149 | N | 0.487 | neutral | None | None | None | None | N |
| S/L | 0.0915 | likely_benign | 0.094 | benign | 0.181 | Stabilizing | 0.001 | N | 0.462 | neutral | None | None | None | None | N |
| S/M | 0.174 | likely_benign | 0.1816 | benign | 0.222 | Stabilizing | 0.235 | N | 0.533 | neutral | None | None | None | None | N |
| S/N | 0.1202 | likely_benign | 0.1579 | benign | -0.448 | Destabilizing | 0.149 | N | 0.519 | neutral | None | None | None | None | N |
| S/P | 0.8623 | likely_pathogenic | 0.9106 | pathogenic | -0.065 | Destabilizing | 0.484 | N | 0.545 | neutral | N | 0.516730868 | None | None | N |
| S/Q | 0.3266 | likely_benign | 0.3554 | ambiguous | -0.366 | Destabilizing | 0.555 | D | 0.499 | neutral | None | None | None | None | N |
| S/R | 0.2787 | likely_benign | 0.3453 | ambiguous | -0.356 | Destabilizing | 0.38 | N | 0.547 | neutral | None | None | None | None | N |
| S/T | 0.0722 | likely_benign | 0.0822 | benign | -0.345 | Destabilizing | None | N | 0.209 | neutral | N | 0.427260231 | None | None | N |
| S/V | 0.1572 | likely_benign | 0.171 | benign | -0.065 | Destabilizing | 0.081 | N | 0.531 | neutral | None | None | None | None | N |
| S/W | 0.2921 | likely_benign | 0.325 | benign | -0.724 | Destabilizing | 0.935 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/Y | 0.142 | likely_benign | 0.165 | benign | -0.349 | Destabilizing | 0.484 | N | 0.599 | neutral | N | 0.512111056 | 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.