Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14296 | 43111;43112;43113 | chr2:178633473;178633472;178633471 | chr2:179498200;179498199;179498198 |
| N2AB | 12655 | 38188;38189;38190 | chr2:178633473;178633472;178633471 | chr2:179498200;179498199;179498198 |
| N2A | 11728 | 35407;35408;35409 | chr2:178633473;178633472;178633471 | chr2:179498200;179498199;179498198 |
| N2B | 5231 | 15916;15917;15918 | chr2:178633473;178633472;178633471 | chr2:179498200;179498199;179498198 |
| Novex-1 | 5356 | 16291;16292;16293 | chr2:178633473;178633472;178633471 | chr2:179498200;179498199;179498198 |
| Novex-2 | 5423 | 16492;16493;16494 | chr2:178633473;178633472;178633471 | chr2:179498200;179498199;179498198 |
| 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 | rs771834069  |
0.007 | 0.767 | N | 0.282 | 0.233 | 0.326074293725 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/E | rs771834069 |
0.007 | 0.767 | N | 0.282 | 0.233 | 0.326074293725 | gnomAD-4.0.0 | 3.18462E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71902E-06 | 0 | 0 |
| K/N | rs1272371985 |
None | 0.999 | N | 0.629 | 0.249 | 0.244539031024 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs1272371985 |
None | 0.999 | N | 0.629 | 0.249 | 0.244539031024 | gnomAD-4.0.0 | 2.47947E-06 | None | None | None | None | N | None | 5.34017E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2625 | likely_benign | 0.2745 | benign | -0.421 | Destabilizing | 0.997 | D | 0.558 | neutral | None | None | None | None | N |
| K/C | 0.7498 | likely_pathogenic | 0.7507 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| K/D | 0.5999 | likely_pathogenic | 0.5766 | pathogenic | 0.039 | Stabilizing | 0.994 | D | 0.616 | neutral | None | None | None | None | N |
| K/E | 0.1671 | likely_benign | 0.149 | benign | 0.115 | Stabilizing | 0.767 | D | 0.282 | neutral | N | 0.426170522 | None | None | N |
| K/F | 0.8604 | likely_pathogenic | 0.8173 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| K/G | 0.4143 | ambiguous | 0.4067 | ambiguous | -0.752 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| K/H | 0.4007 | ambiguous | 0.4031 | ambiguous | -1.122 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| K/I | 0.4193 | ambiguous | 0.3723 | ambiguous | 0.415 | Stabilizing | 1.0 | D | 0.671 | neutral | N | 0.475654768 | None | None | N |
| K/L | 0.4634 | ambiguous | 0.4375 | ambiguous | 0.415 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| K/M | 0.2544 | likely_benign | 0.2337 | benign | 0.327 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| K/N | 0.4208 | ambiguous | 0.3972 | ambiguous | -0.21 | Destabilizing | 0.999 | D | 0.629 | neutral | N | 0.510730396 | None | None | N |
| K/P | 0.8884 | likely_pathogenic | 0.868 | pathogenic | 0.167 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1248 | likely_benign | 0.1373 | benign | -0.339 | Destabilizing | 0.999 | D | 0.623 | neutral | N | 0.493184907 | None | None | N |
| K/R | 0.0985 | likely_benign | 0.0954 | benign | -0.475 | Destabilizing | 0.996 | D | 0.513 | neutral | N | 0.506003647 | None | None | N |
| K/S | 0.3363 | likely_benign | 0.3471 | ambiguous | -0.859 | Destabilizing | 0.997 | D | 0.523 | neutral | None | None | None | None | N |
| K/T | 0.144 | likely_benign | 0.1454 | benign | -0.589 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.477730212 | None | None | N |
| K/V | 0.3857 | ambiguous | 0.3641 | ambiguous | 0.167 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| K/W | 0.8928 | likely_pathogenic | 0.8646 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| K/Y | 0.7558 | likely_pathogenic | 0.6955 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.673 | 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.