Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2889 | 8890;8891;8892 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
| N2AB | 2889 | 8890;8891;8892 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
| N2A | 2889 | 8890;8891;8892 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
| N2B | 2843 | 8752;8753;8754 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
| Novex-1 | 2843 | 8752;8753;8754 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
| Novex-2 | 2843 | 8752;8753;8754 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
| Novex-3 | 2889 | 8890;8891;8892 | chr2:178769916;178769915;178769914 | chr2:179634643;179634642;179634641 |
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/R | rs1245891851  |
0.134 | 0.142 | N | 0.26 | 0.162 | 0.320256813643 | 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 | rs1245891851 |
0.134 | 0.142 | N | 0.26 | 0.162 | 0.320256813643 | gnomAD-4.0.0 | 1.36817E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 0 | 0 |
| K/T | None | None | 0.988 | N | 0.646 | 0.522 | 0.555555669293 | gnomAD-4.0.0 | 6.84087E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99302E-07 | 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 | 0.4661 | ambiguous | 0.5018 | ambiguous | 0.025 | Stabilizing | 0.968 | D | 0.567 | neutral | None | None | None | None | N |
| K/C | 0.7668 | likely_pathogenic | 0.8105 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/D | 0.6189 | likely_pathogenic | 0.6575 | pathogenic | -0.186 | Destabilizing | 0.995 | D | 0.689 | prob.neutral | None | None | None | None | N |
| K/E | 0.1858 | likely_benign | 0.2191 | benign | -0.183 | Destabilizing | 0.958 | D | 0.523 | neutral | N | 0.468159808 | None | None | N |
| K/F | 0.8971 | likely_pathogenic | 0.9084 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| K/G | 0.5199 | ambiguous | 0.5465 | ambiguous | -0.133 | Destabilizing | 0.991 | D | 0.525 | neutral | None | None | None | None | N |
| K/H | 0.3666 | ambiguous | 0.3914 | ambiguous | -0.268 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| K/I | 0.6047 | likely_pathogenic | 0.6211 | pathogenic | 0.361 | Stabilizing | 0.994 | D | 0.684 | prob.neutral | D | 0.588878558 | None | None | N |
| K/L | 0.5439 | ambiguous | 0.5678 | pathogenic | 0.361 | Stabilizing | 0.991 | D | 0.525 | neutral | None | None | None | None | N |
| K/M | 0.3956 | ambiguous | 0.4405 | ambiguous | -0.039 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| K/N | 0.4116 | ambiguous | 0.4504 | ambiguous | 0.095 | Stabilizing | 0.988 | D | 0.659 | neutral | D | 0.557225818 | None | None | N |
| K/P | 0.8206 | likely_pathogenic | 0.8469 | pathogenic | 0.274 | Stabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/Q | 0.1321 | likely_benign | 0.1441 | benign | -0.031 | Destabilizing | 0.988 | D | 0.65 | neutral | N | 0.461935819 | None | None | N |
| K/R | 0.0911 | likely_benign | 0.091 | benign | -0.042 | Destabilizing | 0.142 | N | 0.26 | neutral | N | 0.495469927 | None | None | N |
| K/S | 0.4617 | ambiguous | 0.5019 | ambiguous | -0.283 | Destabilizing | 0.968 | D | 0.582 | neutral | None | None | None | None | N |
| K/T | 0.2481 | likely_benign | 0.2798 | benign | -0.15 | Destabilizing | 0.988 | D | 0.646 | neutral | N | 0.518920071 | None | None | N |
| K/V | 0.5322 | ambiguous | 0.5485 | ambiguous | 0.274 | Stabilizing | 0.995 | D | 0.643 | neutral | None | None | None | None | N |
| K/W | 0.8338 | likely_pathogenic | 0.8579 | pathogenic | -0.353 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/Y | 0.763 | likely_pathogenic | 0.7997 | pathogenic | 0.004 | Stabilizing | 0.998 | D | 0.653 | 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.