Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25318 | 76177;76178;76179 | chr2:178570180;178570179;178570178 | chr2:179434907;179434906;179434905 |
| N2AB | 23677 | 71254;71255;71256 | chr2:178570180;178570179;178570178 | chr2:179434907;179434906;179434905 |
| N2A | 22750 | 68473;68474;68475 | chr2:178570180;178570179;178570178 | chr2:179434907;179434906;179434905 |
| N2B | 16253 | 48982;48983;48984 | chr2:178570180;178570179;178570178 | chr2:179434907;179434906;179434905 |
| Novex-1 | 16378 | 49357;49358;49359 | chr2:178570180;178570179;178570178 | chr2:179434907;179434906;179434905 |
| Novex-2 | 16445 | 49558;49559;49560 | chr2:178570180;178570179;178570178 | chr2:179434907;179434906;179434905 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs878854334  |
None | 0.999 | N | 0.582 | 0.403 | 0.301122078929 | gnomAD-4.0.0 | 2.05294E-06 | None | None | None | None | N | None | 0 | 6.71081E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1001852514 |
-0.362 | 1.0 | N | 0.757 | 0.248 | 0.202949470691 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| K/N | rs1001852514 |
-0.362 | 1.0 | N | 0.757 | 0.248 | 0.202949470691 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| K/N | rs1001852514 |
-0.362 | 1.0 | N | 0.757 | 0.248 | 0.202949470691 | gnomAD-4.0.0 | 3.16112E-05 | None | None | None | None | N | None | 1.33583E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23863E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6086 | likely_pathogenic | 0.6285 | pathogenic | -0.165 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| K/C | 0.855 | likely_pathogenic | 0.8786 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/D | 0.9316 | likely_pathogenic | 0.936 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| K/E | 0.5255 | ambiguous | 0.5349 | ambiguous | -0.719 | Destabilizing | 0.999 | D | 0.582 | neutral | N | 0.518689446 | None | None | N |
| K/F | 0.9792 | likely_pathogenic | 0.9796 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/G | 0.6266 | likely_pathogenic | 0.6529 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/H | 0.6162 | likely_pathogenic | 0.6362 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| K/I | 0.9079 | likely_pathogenic | 0.9084 | pathogenic | 0.425 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| K/L | 0.8661 | likely_pathogenic | 0.8631 | pathogenic | 0.425 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/M | 0.7064 | likely_pathogenic | 0.7129 | pathogenic | 0.643 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.508831516 | None | None | N |
| K/N | 0.8336 | likely_pathogenic | 0.8414 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.466315902 | None | None | N |
| K/P | 0.9502 | likely_pathogenic | 0.9451 | pathogenic | 0.257 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/Q | 0.3029 | likely_benign | 0.3159 | benign | -0.515 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.480167423 | None | None | N |
| K/R | 0.0802 | likely_benign | 0.0807 | benign | -0.175 | Destabilizing | 0.999 | D | 0.526 | neutral | N | 0.477576329 | None | None | N |
| K/S | 0.6888 | likely_pathogenic | 0.717 | pathogenic | -0.612 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| K/T | 0.6448 | likely_pathogenic | 0.666 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.478139506 | None | None | N |
| K/V | 0.842 | likely_pathogenic | 0.8464 | pathogenic | 0.257 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/W | 0.9547 | likely_pathogenic | 0.9581 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/Y | 0.9334 | likely_pathogenic | 0.9346 | pathogenic | -0.065 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.