Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31990 | 96193;96194;96195 | chr2:178544261;178544260;178544259 | chr2:179408988;179408987;179408986 |
| N2AB | 30349 | 91270;91271;91272 | chr2:178544261;178544260;178544259 | chr2:179408988;179408987;179408986 |
| N2A | 29422 | 88489;88490;88491 | chr2:178544261;178544260;178544259 | chr2:179408988;179408987;179408986 |
| N2B | 22925 | 68998;68999;69000 | chr2:178544261;178544260;178544259 | chr2:179408988;179408987;179408986 |
| Novex-1 | 23050 | 69373;69374;69375 | chr2:178544261;178544260;178544259 | chr2:179408988;179408987;179408986 |
| Novex-2 | 23117 | 69574;69575;69576 | chr2:178544261;178544260;178544259 | chr2:179408988;179408987;179408986 |
| 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/L | rs727503541  |
0.058 | 0.013 | N | 0.169 | 0.098 | 0.270889551736 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 9.68E-05 | 0 | None | 0 | None | 0 | 0 | 1.40647E-04 |
| V/L | rs727503541 |
0.058 | 0.013 | N | 0.169 | 0.098 | 0.270889551736 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 2.88351E-04 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs727503541 |
0.058 | 0.013 | N | 0.169 | 0.098 | 0.270889551736 | gnomAD-4.0.0 | 2.47879E-06 | None | None | None | None | I | None | 0 | 0 | None | 1.01358E-04 | 0 | None | 0 | 0 | 0 | 0 | 1.60123E-05 |
| V/M | rs727503541 |
-0.186 | 0.537 | N | 0.259 | 0.098 | None | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | I | None | 1.23967E-04 | 0 | None | 0 | 1.5383E-04 | None | 3.27E-05 | None | 0 | 1.56E-05 | 0 |
| V/M | rs727503541 |
-0.186 | 0.537 | N | 0.259 | 0.098 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs727503541 |
-0.186 | 0.537 | N | 0.259 | 0.098 | None | gnomAD-4.0.0 | 4.02804E-05 | None | None | None | None | I | None | 5.33789E-05 | 0 | None | 0 | 6.01631E-04 | None | 0 | 1.64474E-04 | 2.45814E-05 | 2.19578E-05 | 3.20246E-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 | 0.0809 | likely_benign | 0.0835 | benign | -0.487 | Destabilizing | None | N | 0.063 | neutral | N | 0.386415607 | None | None | I |
| V/C | 0.4118 | ambiguous | 0.4144 | ambiguous | -0.651 | Destabilizing | 0.356 | N | 0.412 | neutral | None | None | None | None | I |
| V/D | 0.1766 | likely_benign | 0.1723 | benign | -0.321 | Destabilizing | 0.016 | N | 0.466 | neutral | None | None | None | None | I |
| V/E | 0.1583 | likely_benign | 0.1548 | benign | -0.436 | Destabilizing | 0.001 | N | 0.161 | neutral | N | 0.365117615 | None | None | I |
| V/F | 0.1394 | likely_benign | 0.1436 | benign | -0.697 | Destabilizing | 0.214 | N | 0.429 | neutral | None | None | None | None | I |
| V/G | 0.0993 | likely_benign | 0.0969 | benign | -0.621 | Destabilizing | 0.012 | N | 0.453 | neutral | N | 0.43718557 | None | None | I |
| V/H | 0.3115 | likely_benign | 0.3183 | benign | -0.177 | Destabilizing | 0.628 | D | 0.459 | neutral | None | None | None | None | I |
| V/I | 0.0696 | likely_benign | 0.0698 | benign | -0.284 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | I |
| V/K | 0.179 | likely_benign | 0.1773 | benign | -0.466 | Destabilizing | 0.031 | N | 0.431 | neutral | None | None | None | None | I |
| V/L | 0.1141 | likely_benign | 0.1175 | benign | -0.284 | Destabilizing | 0.013 | N | 0.169 | neutral | N | 0.431054605 | None | None | I |
| V/M | 0.0968 | likely_benign | 0.0985 | benign | -0.322 | Destabilizing | 0.537 | D | 0.259 | neutral | N | 0.437153858 | None | None | I |
| V/N | 0.1245 | likely_benign | 0.1217 | benign | -0.216 | Destabilizing | 0.072 | N | 0.504 | neutral | None | None | None | None | I |
| V/P | 0.2434 | likely_benign | 0.2364 | benign | -0.316 | Destabilizing | 0.072 | N | 0.503 | neutral | None | None | None | None | I |
| V/Q | 0.1701 | likely_benign | 0.1688 | benign | -0.468 | Destabilizing | 0.072 | N | 0.486 | neutral | None | None | None | None | I |
| V/R | 0.1772 | likely_benign | 0.1777 | benign | 0.074 | Stabilizing | 0.072 | N | 0.494 | neutral | None | None | None | None | I |
| V/S | 0.0909 | likely_benign | 0.0913 | benign | -0.582 | Destabilizing | 0.001 | N | 0.115 | neutral | None | None | None | None | I |
| V/T | 0.1002 | likely_benign | 0.0987 | benign | -0.595 | Destabilizing | None | N | 0.093 | neutral | None | None | None | None | I |
| V/W | 0.6117 | likely_pathogenic | 0.5899 | pathogenic | -0.773 | Destabilizing | 0.864 | D | 0.439 | neutral | None | None | None | None | I |
| V/Y | 0.3306 | likely_benign | 0.3246 | benign | -0.475 | Destabilizing | 0.356 | N | 0.421 | neutral | None | None | None | None | I |
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.