Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30036 | 90331;90332;90333 | chr2:178552794;178552793;178552792 | chr2:179417521;179417520;179417519 |
| N2AB | 28395 | 85408;85409;85410 | chr2:178552794;178552793;178552792 | chr2:179417521;179417520;179417519 |
| N2A | 27468 | 82627;82628;82629 | chr2:178552794;178552793;178552792 | chr2:179417521;179417520;179417519 |
| N2B | 20971 | 63136;63137;63138 | chr2:178552794;178552793;178552792 | chr2:179417521;179417520;179417519 |
| Novex-1 | 21096 | 63511;63512;63513 | chr2:178552794;178552793;178552792 | chr2:179417521;179417520;179417519 |
| Novex-2 | 21163 | 63712;63713;63714 | chr2:178552794;178552793;178552792 | chr2:179417521;179417520;179417519 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 0.999 | N | 0.657 | 0.454 | 0.38342384377 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6983E-06 | 0 | 0 |
| D/G | rs1699937452  |
None | 0.996 | N | 0.679 | 0.47 | 0.310147130316 | gnomAD-4.0.0 | 2.05255E-06 | None | None | None | None | I | None | 0 | 6.70871E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs959063938 |
None | 1.0 | N | 0.729 | 0.336 | 0.424430313326 | gnomAD-4.0.0 | 6.36456E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.54847E-05 | None | 0 | 0 | 0 | 0 | 6.04705E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3476 | ambiguous | 0.3049 | benign | -0.28 | Destabilizing | 0.999 | D | 0.657 | neutral | N | 0.466513973 | None | None | I |
| D/C | 0.7949 | likely_pathogenic | 0.7665 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| D/E | 0.2302 | likely_benign | 0.2212 | benign | -0.32 | Destabilizing | 0.996 | D | 0.517 | neutral | N | 0.478192404 | None | None | I |
| D/F | 0.7111 | likely_pathogenic | 0.657 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| D/G | 0.2739 | likely_benign | 0.2515 | benign | -0.483 | Destabilizing | 0.996 | D | 0.679 | prob.neutral | N | 0.47338123 | None | None | I |
| D/H | 0.4638 | ambiguous | 0.421 | ambiguous | 0.064 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.507688592 | None | None | I |
| D/I | 0.6135 | likely_pathogenic | 0.5507 | ambiguous | 0.21 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| D/K | 0.6482 | likely_pathogenic | 0.6126 | pathogenic | 0.382 | Stabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | I |
| D/L | 0.6008 | likely_pathogenic | 0.5436 | ambiguous | 0.21 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| D/M | 0.7729 | likely_pathogenic | 0.7294 | pathogenic | 0.309 | Stabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| D/N | 0.1338 | likely_benign | 0.1254 | benign | -0.036 | Destabilizing | 0.884 | D | 0.329 | neutral | N | 0.38939441 | None | None | I |
| D/P | 0.9254 | likely_pathogenic | 0.9133 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| D/Q | 0.5327 | ambiguous | 0.4935 | ambiguous | 0.013 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| D/R | 0.6937 | likely_pathogenic | 0.6603 | pathogenic | 0.568 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| D/S | 0.2563 | likely_benign | 0.2336 | benign | -0.118 | Destabilizing | 0.997 | D | 0.659 | neutral | None | None | None | None | I |
| D/T | 0.4858 | ambiguous | 0.432 | ambiguous | 0.048 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | I |
| D/V | 0.4113 | ambiguous | 0.3554 | ambiguous | 0.069 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.512171692 | None | None | I |
| D/W | 0.9396 | likely_pathogenic | 0.928 | pathogenic | None | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| D/Y | 0.3337 | likely_benign | 0.2937 | benign | 0.095 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.477271041 | None | None | I |
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.