Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2407 | 7444;7445;7446 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
| N2AB | 2407 | 7444;7445;7446 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
| N2A | 2407 | 7444;7445;7446 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
| N2B | 2361 | 7306;7307;7308 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
| Novex-1 | 2361 | 7306;7307;7308 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
| Novex-2 | 2361 | 7306;7307;7308 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
| Novex-3 | 2407 | 7444;7445;7446 | chr2:178773949;178773948;178773947 | chr2:179638676;179638675;179638674 |
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 | D | 0.544 | 0.617 | 0.496827001477 | gnomAD-4.0.0 | 1.59052E-06 | None | None | None | None | N | None | 5.65291E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs748869225  |
0.055 | 0.999 | D | 0.499 | 0.518 | 0.638385268675 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.68E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs748869225 |
0.055 | 0.999 | D | 0.499 | 0.518 | 0.638385268675 | gnomAD-4.0.0 | 2.73629E-06 | None | None | None | None | N | None | 0 | 6.70901E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-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 | 0.8216 | likely_pathogenic | 0.8332 | pathogenic | 0.023 | Stabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| K/C | 0.9202 | likely_pathogenic | 0.9178 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/D | 0.88 | likely_pathogenic | 0.8905 | pathogenic | -0.018 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| K/E | 0.5656 | likely_pathogenic | 0.5827 | pathogenic | -0.02 | Destabilizing | 0.999 | D | 0.544 | neutral | D | 0.547959203 | None | None | N |
| K/F | 0.9721 | likely_pathogenic | 0.9756 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| K/G | 0.6838 | likely_pathogenic | 0.6873 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| K/H | 0.56 | ambiguous | 0.5559 | ambiguous | -0.458 | Destabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| K/I | 0.9097 | likely_pathogenic | 0.9255 | pathogenic | 0.452 | Stabilizing | 1.0 | D | 0.672 | neutral | D | 0.603080207 | None | None | N |
| K/L | 0.8044 | likely_pathogenic | 0.8251 | pathogenic | 0.452 | Stabilizing | 1.0 | D | 0.557 | neutral | None | None | None | None | N |
| K/M | 0.721 | likely_pathogenic | 0.7437 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.608 | neutral | None | None | None | None | N |
| K/N | 0.7731 | likely_pathogenic | 0.7862 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.637 | neutral | D | 0.527177833 | None | None | N |
| K/P | 0.9287 | likely_pathogenic | 0.9368 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| K/Q | 0.3185 | likely_benign | 0.3117 | benign | 0.044 | Stabilizing | 1.0 | D | 0.629 | neutral | D | 0.603688453 | None | None | N |
| K/R | 0.1054 | likely_benign | 0.1031 | benign | -0.03 | Destabilizing | 0.999 | D | 0.499 | neutral | D | 0.547787671 | None | None | N |
| K/S | 0.778 | likely_pathogenic | 0.7858 | pathogenic | -0.225 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| K/T | 0.6702 | likely_pathogenic | 0.694 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.591 | neutral | D | 0.532087677 | None | None | N |
| K/V | 0.8848 | likely_pathogenic | 0.9019 | pathogenic | 0.337 | Stabilizing | 1.0 | D | 0.582 | neutral | None | None | None | None | N |
| K/W | 0.951 | likely_pathogenic | 0.9527 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/Y | 0.9129 | likely_pathogenic | 0.9191 | pathogenic | 0.138 | Stabilizing | 1.0 | D | 0.616 | 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.