Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1568 | 4927;4928;4929 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
| N2AB | 1568 | 4927;4928;4929 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
| N2A | 1568 | 4927;4928;4929 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
| N2B | 1522 | 4789;4790;4791 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
| Novex-1 | 1522 | 4789;4790;4791 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
| Novex-2 | 1522 | 4789;4790;4791 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
| Novex-3 | 1568 | 4927;4928;4929 | chr2:178777261;178777260;178777259 | chr2:179641988;179641987;179641986 |
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 | None | None | 0.999 | N | 0.713 | 0.477 | 0.404733080969 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| K/N | rs1392098085  |
0.192 | 1.0 | N | 0.708 | 0.312 | 0.292787519742 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| K/R | None | None | 0.999 | N | 0.647 | 0.274 | 0.53534322723 | gnomAD-4.0.0 | 6.84115E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99326E-07 | 0 | 0 |
| K/T | rs1331457272 |
-0.095 | 1.0 | N | 0.665 | 0.526 | 0.436671004673 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs1331457272 |
-0.095 | 1.0 | N | 0.665 | 0.526 | 0.436671004673 | gnomAD-4.0.0 | 6.84115E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 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 | 0.426 | ambiguous | 0.382 | ambiguous | 0.021 | Stabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| K/C | 0.8151 | likely_pathogenic | 0.7847 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| K/D | 0.7801 | likely_pathogenic | 0.764 | pathogenic | 0.127 | Stabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| K/E | 0.2557 | likely_benign | 0.2462 | benign | 0.14 | Stabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.509962453 | None | None | N |
| K/F | 0.8682 | likely_pathogenic | 0.8564 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | None | None | None | None | N |
| K/G | 0.5807 | likely_pathogenic | 0.5375 | ambiguous | -0.177 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| K/H | 0.4281 | ambiguous | 0.3942 | ambiguous | -0.357 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| K/I | 0.484 | ambiguous | 0.4813 | ambiguous | 0.462 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| K/L | 0.4479 | ambiguous | 0.4169 | ambiguous | 0.462 | Stabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| K/M | 0.3396 | likely_benign | 0.3269 | benign | 0.158 | Stabilizing | 1.0 | D | 0.622 | neutral | N | 0.514533379 | None | None | N |
| K/N | 0.6206 | likely_pathogenic | 0.6103 | pathogenic | 0.129 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.513363795 | None | None | N |
| K/P | 0.6379 | likely_pathogenic | 0.5698 | pathogenic | 0.343 | Stabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| K/Q | 0.16 | likely_benign | 0.1491 | benign | -0.015 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.510168819 | None | None | N |
| K/R | 0.0828 | likely_benign | 0.0778 | benign | -0.03 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.505881891 | None | None | N |
| K/S | 0.5569 | ambiguous | 0.5263 | ambiguous | -0.366 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/T | 0.2571 | likely_benign | 0.2438 | benign | -0.203 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.511256583 | None | None | N |
| K/V | 0.4417 | ambiguous | 0.4193 | ambiguous | 0.343 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/W | 0.8329 | likely_pathogenic | 0.8111 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/Y | 0.7948 | likely_pathogenic | 0.7808 | pathogenic | 0.165 | 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.