Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28703 | 86332;86333;86334 | chr2:178560025;178560024;178560023 | chr2:179424752;179424751;179424750 |
| N2AB | 27062 | 81409;81410;81411 | chr2:178560025;178560024;178560023 | chr2:179424752;179424751;179424750 |
| N2A | 26135 | 78628;78629;78630 | chr2:178560025;178560024;178560023 | chr2:179424752;179424751;179424750 |
| N2B | 19638 | 59137;59138;59139 | chr2:178560025;178560024;178560023 | chr2:179424752;179424751;179424750 |
| Novex-1 | 19763 | 59512;59513;59514 | chr2:178560025;178560024;178560023 | chr2:179424752;179424751;179424750 |
| Novex-2 | 19830 | 59713;59714;59715 | chr2:178560025;178560024;178560023 | chr2:179424752;179424751;179424750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs1406320039  |
None | 0.549 | N | 0.265 | 0.112 | 0.146414634003 | 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 |
| Q/R | rs1406320039 |
None | 0.549 | N | 0.265 | 0.112 | 0.146414634003 | gnomAD-4.0.0 | 6.57134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1377 | likely_benign | 0.1391 | benign | -0.171 | Destabilizing | 0.25 | N | 0.3 | neutral | None | None | None | None | N |
| Q/C | 0.4346 | ambiguous | 0.4738 | ambiguous | 0.238 | Stabilizing | 0.992 | D | 0.245 | neutral | None | None | None | None | N |
| Q/D | 0.2216 | likely_benign | 0.2225 | benign | 0.173 | Stabilizing | 0.447 | N | 0.235 | neutral | None | None | None | None | N |
| Q/E | 0.0782 | likely_benign | 0.0771 | benign | 0.126 | Stabilizing | 0.334 | N | 0.273 | neutral | N | 0.403731931 | None | None | N |
| Q/F | 0.4929 | ambiguous | 0.5332 | ambiguous | -0.505 | Destabilizing | 0.739 | D | 0.29 | neutral | None | None | None | None | N |
| Q/G | 0.1843 | likely_benign | 0.2018 | benign | -0.313 | Destabilizing | 0.617 | D | 0.307 | neutral | None | None | None | None | N |
| Q/H | 0.1405 | likely_benign | 0.1467 | benign | -0.305 | Destabilizing | 0.009 | N | 0.189 | neutral | N | 0.467167334 | None | None | N |
| Q/I | 0.2482 | likely_benign | 0.2554 | benign | 0.105 | Stabilizing | 0.447 | N | 0.336 | neutral | None | None | None | None | N |
| Q/K | 0.0876 | likely_benign | 0.0899 | benign | 0.255 | Stabilizing | 0.549 | D | 0.251 | neutral | N | 0.425261996 | None | None | N |
| Q/L | 0.1035 | likely_benign | 0.1089 | benign | 0.105 | Stabilizing | 0.004 | N | 0.219 | neutral | N | 0.465759038 | None | None | N |
| Q/M | 0.2731 | likely_benign | 0.2727 | benign | 0.396 | Stabilizing | 0.85 | D | 0.285 | neutral | None | None | None | None | N |
| Q/N | 0.1779 | likely_benign | 0.1863 | benign | -0.03 | Destabilizing | 0.021 | N | 0.191 | neutral | None | None | None | None | N |
| Q/P | 0.078 | likely_benign | 0.075 | benign | 0.039 | Stabilizing | 0.896 | D | 0.319 | neutral | N | 0.451640521 | None | None | N |
| Q/R | 0.093 | likely_benign | 0.1003 | benign | 0.343 | Stabilizing | 0.549 | D | 0.265 | neutral | N | 0.4439624 | None | None | N |
| Q/S | 0.1442 | likely_benign | 0.1472 | benign | -0.042 | Destabilizing | 0.25 | N | 0.227 | neutral | None | None | None | None | N |
| Q/T | 0.1137 | likely_benign | 0.1182 | benign | 0.057 | Stabilizing | 0.021 | N | 0.195 | neutral | None | None | None | None | N |
| Q/V | 0.1645 | likely_benign | 0.1607 | benign | 0.039 | Stabilizing | 0.447 | N | 0.336 | neutral | None | None | None | None | N |
| Q/W | 0.4417 | ambiguous | 0.4803 | ambiguous | -0.503 | Destabilizing | 0.992 | D | 0.258 | neutral | None | None | None | None | N |
| Q/Y | 0.3351 | likely_benign | 0.3439 | ambiguous | -0.222 | Destabilizing | 0.739 | D | 0.309 | 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.