Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14509 | 43750;43751;43752 | chr2:178632369;178632368;178632367 | chr2:179497096;179497095;179497094 |
| N2AB | 12868 | 38827;38828;38829 | chr2:178632369;178632368;178632367 | chr2:179497096;179497095;179497094 |
| N2A | 11941 | 36046;36047;36048 | chr2:178632369;178632368;178632367 | chr2:179497096;179497095;179497094 |
| N2B | 5444 | 16555;16556;16557 | chr2:178632369;178632368;178632367 | chr2:179497096;179497095;179497094 |
| Novex-1 | 5569 | 16930;16931;16932 | chr2:178632369;178632368;178632367 | chr2:179497096;179497095;179497094 |
| Novex-2 | 5636 | 17131;17132;17133 | chr2:178632369;178632368;178632367 | chr2:179497096;179497095;179497094 |
| 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/Q | rs2059909024  |
None | 1.0 | D | 0.711 | 0.452 | 0.423836183345 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/Q | rs2059909024 |
None | 1.0 | D | 0.711 | 0.452 | 0.423836183345 | gnomAD-4.0.0 | 2.49553E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.40532E-06 | 0 | 0 |
| K/R | rs772970275 |
-0.163 | 0.999 | N | 0.645 | 0.33 | 0.477298106951 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 1.536E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs772970275 |
-0.163 | 0.999 | N | 0.645 | 0.33 | 0.477298106951 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs772970275 |
-0.163 | 0.999 | N | 0.645 | 0.33 | 0.477298106951 | gnomAD-4.0.0 | 7.79452E-06 | None | None | None | None | N | None | 0 | 1.04091E-04 | 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 | 0.5892 | likely_pathogenic | 0.4323 | ambiguous | -0.194 | Destabilizing | 0.999 | D | 0.706 | prob.neutral | None | None | None | None | N |
| K/C | 0.9233 | likely_pathogenic | 0.8834 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| K/D | 0.8577 | likely_pathogenic | 0.7601 | pathogenic | -0.035 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/E | 0.2869 | likely_benign | 0.1931 | benign | 0.023 | Stabilizing | 0.999 | D | 0.717 | prob.delet. | N | 0.510963206 | None | None | N |
| K/F | 0.9196 | likely_pathogenic | 0.8638 | pathogenic | -0.061 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| K/G | 0.7074 | likely_pathogenic | 0.5786 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/H | 0.6743 | likely_pathogenic | 0.5622 | ambiguous | -0.777 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| K/I | 0.6227 | likely_pathogenic | 0.4663 | ambiguous | 0.537 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.53897168 | None | None | N |
| K/L | 0.5772 | likely_pathogenic | 0.459 | ambiguous | 0.537 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/M | 0.4089 | ambiguous | 0.3222 | benign | 0.273 | Stabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| K/N | 0.7013 | likely_pathogenic | 0.5628 | ambiguous | -0.158 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.619019609 | None | None | N |
| K/P | 0.8327 | likely_pathogenic | 0.7533 | pathogenic | 0.324 | Stabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| K/Q | 0.2799 | likely_benign | 0.203 | benign | -0.269 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.575434902 | None | None | N |
| K/R | 0.109 | likely_benign | 0.0931 | benign | -0.387 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.506404847 | None | None | N |
| K/S | 0.713 | likely_pathogenic | 0.5724 | pathogenic | -0.687 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| K/T | 0.375 | ambiguous | 0.2625 | benign | -0.454 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.511449873 | None | None | N |
| K/V | 0.5566 | ambiguous | 0.4063 | ambiguous | 0.324 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/W | 0.9179 | likely_pathogenic | 0.8803 | pathogenic | -0.01 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/Y | 0.8536 | likely_pathogenic | 0.7972 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.679 | prob.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.