Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10088 | 30487;30488;30489 | chr2:178702625;178702624;178702623 | chr2:179567352;179567351;179567350 |
| N2AB | 9771 | 29536;29537;29538 | chr2:178702625;178702624;178702623 | chr2:179567352;179567351;179567350 |
| N2A | 8844 | 26755;26756;26757 | chr2:178702625;178702624;178702623 | chr2:179567352;179567351;179567350 |
| 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/A | None | None | 0.953 | None | 0.493 | 0.205 | 0.65701131685 | gnomAD-4.0.0 | 6.84142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99399E-06 | 0 | 0 |
| V/M | rs771073631  |
-0.274 | 1.0 | None | 0.522 | 0.287 | 0.621334715683 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 4.64E-05 | 0 | 0 |
| V/M | rs771073631 |
-0.274 | 1.0 | None | 0.522 | 0.287 | 0.621334715683 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 0 | 0 | 0 |
| V/M | rs771073631 |
-0.274 | 1.0 | None | 0.522 | 0.287 | 0.621334715683 | gnomAD-4.0.0 | 1.11538E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.68794E-05 | 0 | 8.47551E-06 | 3.29395E-05 | 3.20184E-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 | 0.8302 | likely_pathogenic | 0.8222 | pathogenic | -0.81 | Destabilizing | 0.953 | D | 0.493 | neutral | None | None | None | None | N |
| V/C | 0.9875 | likely_pathogenic | 0.9873 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | N |
| V/D | 0.9819 | likely_pathogenic | 0.9788 | pathogenic | -0.256 | Destabilizing | 0.971 | D | 0.533 | neutral | None | None | None | None | N |
| V/E | 0.8906 | likely_pathogenic | 0.8655 | pathogenic | -0.263 | Destabilizing | 0.219 | N | 0.279 | neutral | None | None | None | None | N |
| V/F | 0.7898 | likely_pathogenic | 0.8017 | pathogenic | -0.531 | Destabilizing | 0.999 | D | 0.553 | neutral | None | None | None | None | N |
| V/G | 0.9522 | likely_pathogenic | 0.9527 | pathogenic | -1.075 | Destabilizing | 0.99 | D | 0.548 | neutral | None | None | None | None | N |
| V/H | 0.9811 | likely_pathogenic | 0.9778 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| V/I | 0.1701 | likely_benign | 0.1792 | benign | -0.206 | Destabilizing | 0.994 | D | 0.519 | neutral | None | None | None | None | N |
| V/K | 0.9411 | likely_pathogenic | 0.9303 | pathogenic | -0.657 | Destabilizing | 0.985 | D | 0.537 | neutral | None | None | None | None | N |
| V/L | 0.7929 | likely_pathogenic | 0.7771 | pathogenic | -0.206 | Destabilizing | 0.991 | D | 0.539 | neutral | None | None | None | None | N |
| V/M | 0.6646 | likely_pathogenic | 0.6426 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.522 | neutral | None | None | None | None | N |
| V/N | 0.9649 | likely_pathogenic | 0.9537 | pathogenic | -0.59 | Destabilizing | 0.998 | D | 0.6 | neutral | None | None | None | None | N |
| V/P | 0.9913 | likely_pathogenic | 0.9927 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.583 | neutral | None | None | None | None | N |
| V/Q | 0.9138 | likely_pathogenic | 0.8933 | pathogenic | -0.683 | Destabilizing | 0.996 | D | 0.531 | neutral | None | None | None | None | N |
| V/R | 0.9018 | likely_pathogenic | 0.8888 | pathogenic | -0.226 | Destabilizing | 0.996 | D | 0.605 | neutral | None | None | None | None | N |
| V/S | 0.9037 | likely_pathogenic | 0.8901 | pathogenic | -1.107 | Destabilizing | 0.985 | D | 0.544 | neutral | None | None | None | None | N |
| V/T | 0.6913 | likely_pathogenic | 0.6346 | pathogenic | -0.992 | Destabilizing | 0.993 | D | 0.484 | neutral | None | None | None | None | N |
| V/W | 0.9931 | likely_pathogenic | 0.9931 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/Y | 0.9744 | likely_pathogenic | 0.9717 | pathogenic | -0.371 | Destabilizing | 0.999 | D | 0.551 | 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.