Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2969 | 9130;9131;9132 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
| N2AB | 2969 | 9130;9131;9132 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
| N2A | 2969 | 9130;9131;9132 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
| N2B | 2923 | 8992;8993;8994 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
| Novex-1 | 2923 | 8992;8993;8994 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
| Novex-2 | 2923 | 8992;8993;8994 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
| Novex-3 | 2969 | 9130;9131;9132 | chr2:178768931;178768930;178768929 | chr2:179633658;179633657;179633656 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs764394936  |
-1.665 | 0.02 | N | 0.232 | 0.167 | 0.560529172091 | gnomAD-2.1.1 | 9.97E-05 | None | None | None | None | N | None | 0 | 6.94806E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| I/V | rs764394936 |
-1.665 | 0.02 | N | 0.232 | 0.167 | 0.560529172091 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96412E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs764394936 |
-1.665 | 0.02 | N | 0.232 | 0.167 | 0.560529172091 | gnomAD-4.0.0 | 4.35647E-05 | None | None | None | None | N | None | 0 | 5.25424E-04 | None | 0 | 0 | None | 0 | 0 | 7.17563E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.867 | likely_pathogenic | 0.8804 | pathogenic | -1.635 | Destabilizing | 0.91 | D | 0.43 | neutral | None | None | None | None | N |
| I/C | 0.9527 | likely_pathogenic | 0.9628 | pathogenic | -0.852 | Destabilizing | 0.999 | D | 0.501 | neutral | None | None | None | None | N |
| I/D | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -1.238 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | N |
| I/E | 0.9844 | likely_pathogenic | 0.9848 | pathogenic | -1.197 | Destabilizing | 0.993 | D | 0.683 | prob.neutral | None | None | None | None | N |
| I/F | 0.6987 | likely_pathogenic | 0.7056 | pathogenic | -1.076 | Destabilizing | 0.982 | D | 0.437 | neutral | D | 0.569331587 | None | None | N |
| I/G | 0.987 | likely_pathogenic | 0.9878 | pathogenic | -1.985 | Destabilizing | 0.993 | D | 0.681 | prob.neutral | None | None | None | None | N |
| I/H | 0.9847 | likely_pathogenic | 0.9864 | pathogenic | -1.211 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| I/K | 0.969 | likely_pathogenic | 0.9706 | pathogenic | -1.144 | Destabilizing | 0.993 | D | 0.682 | prob.neutral | None | None | None | None | N |
| I/L | 0.2453 | likely_benign | 0.2341 | benign | -0.726 | Destabilizing | 0.58 | D | 0.344 | neutral | N | 0.496079285 | None | None | N |
| I/M | 0.2923 | likely_benign | 0.3155 | benign | -0.574 | Destabilizing | 0.991 | D | 0.441 | neutral | D | 0.569175718 | None | None | N |
| I/N | 0.9492 | likely_pathogenic | 0.9548 | pathogenic | -1.004 | Destabilizing | 0.997 | D | 0.671 | neutral | D | 0.57086579 | None | None | N |
| I/P | 0.9565 | likely_pathogenic | 0.96 | pathogenic | -0.999 | Destabilizing | 0.998 | D | 0.675 | neutral | None | None | None | None | N |
| I/Q | 0.9734 | likely_pathogenic | 0.9759 | pathogenic | -1.117 | Destabilizing | 0.998 | D | 0.663 | neutral | None | None | None | None | N |
| I/R | 0.9534 | likely_pathogenic | 0.9571 | pathogenic | -0.616 | Destabilizing | 0.993 | D | 0.666 | neutral | None | None | None | None | N |
| I/S | 0.9422 | likely_pathogenic | 0.9484 | pathogenic | -1.572 | Destabilizing | 0.991 | D | 0.597 | neutral | D | 0.569331587 | None | None | N |
| I/T | 0.858 | likely_pathogenic | 0.8755 | pathogenic | -1.408 | Destabilizing | 0.939 | D | 0.423 | neutral | D | 0.567792299 | None | None | N |
| I/V | 0.0814 | likely_benign | 0.0847 | benign | -0.999 | Destabilizing | 0.02 | N | 0.232 | neutral | N | 0.469615034 | None | None | N |
| I/W | 0.991 | likely_pathogenic | 0.991 | pathogenic | -1.208 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| I/Y | 0.9564 | likely_pathogenic | 0.9578 | pathogenic | -0.967 | Destabilizing | 0.993 | D | 0.457 | 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.