Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9073 | 27442;27443;27444 | chr2:178712808;178712807;178712806 | chr2:179577535;179577534;179577533 |
| N2AB | 8756 | 26491;26492;26493 | chr2:178712808;178712807;178712806 | chr2:179577535;179577534;179577533 |
| N2A | 7829 | 23710;23711;23712 | chr2:178712808;178712807;178712806 | chr2:179577535;179577534;179577533 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 0.642 | N | 0.577 | 0.258 | 0.764360434359 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8583E-06 | 0 | 0 |
| V/L | rs756400799  |
-0.527 | 0.002 | N | 0.167 | 0.143 | 0.277730125212 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.69E-05 | 0 |
| V/L | rs756400799 |
-0.527 | 0.002 | N | 0.167 | 0.143 | 0.277730125212 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/L | rs756400799 |
-0.527 | 0.002 | N | 0.167 | 0.143 | 0.277730125212 | gnomAD-4.0.0 | 4.2136E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.67901E-05 | 0 | 1.60067E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.147 | likely_benign | 0.1694 | benign | -1.214 | Destabilizing | 0.139 | N | 0.283 | neutral | N | 0.483526736 | None | None | N |
| V/C | 0.7514 | likely_pathogenic | 0.764 | pathogenic | -0.957 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | N |
| V/D | 0.3383 | likely_benign | 0.411 | ambiguous | -0.94 | Destabilizing | 0.642 | D | 0.577 | neutral | N | 0.488046187 | None | None | N |
| V/E | 0.2036 | likely_benign | 0.2388 | benign | -0.998 | Destabilizing | 0.543 | D | 0.549 | neutral | None | None | None | None | N |
| V/F | 0.1148 | likely_benign | 0.124 | benign | -1.199 | Destabilizing | 0.863 | D | 0.564 | neutral | N | 0.519263528 | None | None | N |
| V/G | 0.2644 | likely_benign | 0.3166 | benign | -1.452 | Destabilizing | 0.642 | D | 0.569 | neutral | N | 0.497021386 | None | None | N |
| V/H | 0.4033 | ambiguous | 0.4404 | ambiguous | -0.993 | Destabilizing | 0.944 | D | 0.603 | neutral | None | None | None | None | N |
| V/I | 0.0726 | likely_benign | 0.0688 | benign | -0.69 | Destabilizing | 0.27 | N | 0.455 | neutral | N | 0.511969409 | None | None | N |
| V/K | 0.2114 | likely_benign | 0.236 | benign | -0.86 | Destabilizing | 0.543 | D | 0.563 | neutral | None | None | None | None | N |
| V/L | 0.1618 | likely_benign | 0.162 | benign | -0.69 | Destabilizing | 0.002 | N | 0.167 | neutral | N | 0.472336372 | None | None | N |
| V/M | 0.1061 | likely_benign | 0.1064 | benign | -0.525 | Destabilizing | 0.893 | D | 0.519 | neutral | None | None | None | None | N |
| V/N | 0.281 | likely_benign | 0.3091 | benign | -0.609 | Destabilizing | 0.704 | D | 0.598 | neutral | None | None | None | None | N |
| V/P | 0.8099 | likely_pathogenic | 0.8655 | pathogenic | -0.83 | Destabilizing | 0.944 | D | 0.598 | neutral | None | None | None | None | N |
| V/Q | 0.2316 | likely_benign | 0.257 | benign | -0.874 | Destabilizing | 0.176 | N | 0.46 | neutral | None | None | None | None | N |
| V/R | 0.1791 | likely_benign | 0.2113 | benign | -0.341 | Destabilizing | 0.893 | D | 0.621 | neutral | None | None | None | None | N |
| V/S | 0.2027 | likely_benign | 0.2266 | benign | -1.109 | Destabilizing | 0.037 | N | 0.324 | neutral | None | None | None | None | N |
| V/T | 0.1341 | likely_benign | 0.1432 | benign | -1.064 | Destabilizing | 0.013 | N | 0.145 | neutral | None | None | None | None | N |
| V/W | 0.6237 | likely_pathogenic | 0.6818 | pathogenic | -1.283 | Destabilizing | 0.995 | D | 0.64 | neutral | None | None | None | None | N |
| V/Y | 0.4129 | ambiguous | 0.4369 | ambiguous | -0.98 | Destabilizing | 0.981 | D | 0.556 | 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.