Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14256 | 42991;42992;42993 | chr2:178633593;178633592;178633591 | chr2:179498320;179498319;179498318 |
| N2AB | 12615 | 38068;38069;38070 | chr2:178633593;178633592;178633591 | chr2:179498320;179498319;179498318 |
| N2A | 11688 | 35287;35288;35289 | chr2:178633593;178633592;178633591 | chr2:179498320;179498319;179498318 |
| N2B | 5191 | 15796;15797;15798 | chr2:178633593;178633592;178633591 | chr2:179498320;179498319;179498318 |
| Novex-1 | 5316 | 16171;16172;16173 | chr2:178633593;178633592;178633591 | chr2:179498320;179498319;179498318 |
| Novex-2 | 5383 | 16372;16373;16374 | chr2:178633593;178633592;178633591 | chr2:179498320;179498319;179498318 |
| 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 | None | None | 1.0 | D | 0.695 | 0.45 | 0.424430313326 | gnomAD-4.0.0 | 8.21284E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07952E-05 | 0 | 0 |
| K/R | rs768083088  |
0.006 | 0.999 | N | 0.657 | 0.366 | 0.575180444326 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs768083088 |
0.006 | 0.999 | N | 0.657 | 0.366 | 0.575180444326 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30976E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs768083088 |
0.006 | 0.999 | N | 0.657 | 0.366 | 0.575180444326 | gnomAD-4.0.0 | 3.84531E-06 | None | None | None | None | N | None | 0 | 5.08699E-05 | 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 | 0.8073 | likely_pathogenic | 0.8026 | pathogenic | -0.098 | Destabilizing | 0.999 | D | 0.636 | neutral | None | None | None | None | N |
| K/C | 0.9303 | likely_pathogenic | 0.9348 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| K/D | 0.9498 | likely_pathogenic | 0.9492 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| K/E | 0.5471 | ambiguous | 0.5584 | ambiguous | 0.238 | Stabilizing | 0.999 | D | 0.665 | neutral | N | 0.502191182 | None | None | N |
| K/F | 0.9724 | likely_pathogenic | 0.9752 | pathogenic | -0.07 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| K/G | 0.8351 | likely_pathogenic | 0.8291 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| K/H | 0.7036 | likely_pathogenic | 0.7323 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.594 | neutral | None | None | None | None | N |
| K/I | 0.8623 | likely_pathogenic | 0.8421 | pathogenic | 0.534 | Stabilizing | 1.0 | D | 0.622 | neutral | D | 0.591319433 | None | None | N |
| K/L | 0.8 | likely_pathogenic | 0.788 | pathogenic | 0.534 | Stabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| K/M | 0.6983 | likely_pathogenic | 0.682 | pathogenic | 0.038 | Stabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/N | 0.888 | likely_pathogenic | 0.8796 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.497837557 | None | None | N |
| K/P | 0.9728 | likely_pathogenic | 0.9676 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | N |
| K/Q | 0.4165 | ambiguous | 0.4283 | ambiguous | -0.127 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.538427973 | None | None | N |
| K/R | 0.1115 | likely_benign | 0.1198 | benign | -0.107 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.505072118 | None | None | N |
| K/S | 0.8605 | likely_pathogenic | 0.862 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| K/T | 0.6608 | likely_pathogenic | 0.6405 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.531405233 | None | None | N |
| K/V | 0.7937 | likely_pathogenic | 0.7818 | pathogenic | 0.352 | Stabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| K/W | 0.9626 | likely_pathogenic | 0.9705 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| K/Y | 0.9258 | likely_pathogenic | 0.935 | pathogenic | 0.243 | Stabilizing | 1.0 | D | 0.584 | 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.