Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6394 | 19405;19406;19407 | chr2:178728746;178728745;178728744 | chr2:179593473;179593472;179593471 |
| N2AB | 6077 | 18454;18455;18456 | chr2:178728746;178728745;178728744 | chr2:179593473;179593472;179593471 |
| N2A | 5150 | 15673;15674;15675 | chr2:178728746;178728745;178728744 | chr2:179593473;179593472;179593471 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs969002490  |
None | 0.912 | N | 0.465 | 0.683 | 0.886122297003 | gnomAD-4.0.0 | 1.37542E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80886E-06 | 0 | 0 |
| V/L | rs370515485 |
-0.295 | 0.001 | N | 0.108 | 0.055 | None | gnomAD-2.1.1 | 8.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.81124E-04 | 1.17616E-04 | 2.82725E-04 |
| V/L | rs370515485 |
-0.295 | 0.001 | N | 0.108 | 0.055 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 2.82752E-04 | 0 | 4.41E-05 | 0 | 0 |
| V/L | rs370515485 |
-0.295 | 0.001 | N | 0.108 | 0.055 | None | gnomAD-4.0.0 | 3.55271E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.3896E-05 | 0 | None | 2.97433E-04 | 0 | 2.98586E-05 | 0 | 3.22487E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1468 | likely_benign | 0.1511 | benign | -1.035 | Destabilizing | 0.165 | N | 0.358 | neutral | N | 0.521653259 | None | None | N |
| V/C | 0.7398 | likely_pathogenic | 0.6859 | pathogenic | -0.806 | Destabilizing | 0.981 | D | 0.339 | neutral | None | None | None | None | N |
| V/D | 0.4131 | ambiguous | 0.386 | ambiguous | -0.827 | Destabilizing | 0.912 | D | 0.465 | neutral | N | 0.508478889 | None | None | N |
| V/E | 0.2561 | likely_benign | 0.2561 | benign | -0.868 | Destabilizing | 0.932 | D | 0.415 | neutral | None | None | None | None | N |
| V/F | 0.1401 | likely_benign | 0.1457 | benign | -0.861 | Destabilizing | 0.003 | N | 0.266 | neutral | N | 0.490841933 | None | None | N |
| V/G | 0.2477 | likely_benign | 0.2528 | benign | -1.297 | Destabilizing | 0.773 | D | 0.437 | neutral | N | 0.50409757 | None | None | N |
| V/H | 0.5485 | ambiguous | 0.5205 | ambiguous | -0.857 | Destabilizing | 0.981 | D | 0.451 | neutral | None | None | None | None | N |
| V/I | 0.0764 | likely_benign | 0.0734 | benign | -0.447 | Destabilizing | 0.001 | N | 0.105 | neutral | N | 0.448771653 | None | None | N |
| V/K | 0.2587 | likely_benign | 0.2702 | benign | -0.98 | Destabilizing | 0.818 | D | 0.408 | neutral | None | None | None | None | N |
| V/L | 0.1633 | likely_benign | 0.1625 | benign | -0.447 | Destabilizing | 0.001 | N | 0.108 | neutral | N | 0.475630181 | None | None | N |
| V/M | 0.0963 | likely_benign | 0.1055 | benign | -0.42 | Destabilizing | 0.69 | D | 0.378 | neutral | None | None | None | None | N |
| V/N | 0.3573 | ambiguous | 0.3118 | benign | -0.723 | Destabilizing | 0.932 | D | 0.459 | neutral | None | None | None | None | N |
| V/P | 0.8555 | likely_pathogenic | 0.8378 | pathogenic | -0.607 | Destabilizing | 0.932 | D | 0.412 | neutral | None | None | None | None | N |
| V/Q | 0.2665 | likely_benign | 0.2624 | benign | -0.907 | Destabilizing | 0.932 | D | 0.419 | neutral | None | None | None | None | N |
| V/R | 0.2328 | likely_benign | 0.2273 | benign | -0.462 | Destabilizing | 0.818 | D | 0.458 | neutral | None | None | None | None | N |
| V/S | 0.2289 | likely_benign | 0.212 | benign | -1.171 | Destabilizing | 0.818 | D | 0.405 | neutral | None | None | None | None | N |
| V/T | 0.1468 | likely_benign | 0.1359 | benign | -1.102 | Destabilizing | 0.388 | N | 0.341 | neutral | None | None | None | None | N |
| V/W | 0.6688 | likely_pathogenic | 0.695 | pathogenic | -1.012 | Destabilizing | 0.981 | D | 0.491 | neutral | None | None | None | None | N |
| V/Y | 0.5132 | ambiguous | 0.4991 | ambiguous | -0.722 | Destabilizing | 0.527 | D | 0.342 | 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.