Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19584 | 58975;58976;58977 | chr2:178593458;178593457;178593456 | chr2:179458185;179458184;179458183 |
| N2AB | 17943 | 54052;54053;54054 | chr2:178593458;178593457;178593456 | chr2:179458185;179458184;179458183 |
| N2A | 17016 | 51271;51272;51273 | chr2:178593458;178593457;178593456 | chr2:179458185;179458184;179458183 |
| N2B | 10519 | 31780;31781;31782 | chr2:178593458;178593457;178593456 | chr2:179458185;179458184;179458183 |
| Novex-1 | 10644 | 32155;32156;32157 | chr2:178593458;178593457;178593456 | chr2:179458185;179458184;179458183 |
| Novex-2 | 10711 | 32356;32357;32358 | chr2:178593458;178593457;178593456 | chr2:179458185;179458184;179458183 |
| 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/H | rs765734391  |
-0.651 | 0.484 | N | 0.56 | 0.193 | 0.323615622048 | gnomAD-4.0.0 | 1.59858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86275E-06 | 0 | 0 |
| D/Y | rs765734391 |
-0.059 | 0.741 | N | 0.605 | 0.213 | 0.317378411342 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.77E-05 | None | 0 | 0 | 0 |
| D/Y | rs765734391 |
-0.059 | 0.741 | N | 0.605 | 0.213 | 0.317378411342 | gnomAD-4.0.0 | 3.19718E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.918E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1256 | likely_benign | 0.124 | benign | -0.292 | Destabilizing | 0.062 | N | 0.521 | neutral | N | 0.482558074 | None | None | N |
| D/C | 0.5214 | ambiguous | 0.491 | ambiguous | -0.168 | Destabilizing | 0.935 | D | 0.637 | neutral | None | None | None | None | N |
| D/E | 0.1075 | likely_benign | 0.1085 | benign | -0.704 | Destabilizing | None | N | 0.109 | neutral | N | 0.429107591 | None | None | N |
| D/F | 0.5457 | ambiguous | 0.5193 | ambiguous | -0.161 | Destabilizing | 0.791 | D | 0.603 | neutral | None | None | None | None | N |
| D/G | 0.125 | likely_benign | 0.1202 | benign | -0.593 | Destabilizing | 0.117 | N | 0.496 | neutral | N | 0.380951072 | None | None | N |
| D/H | 0.2697 | likely_benign | 0.2562 | benign | -0.576 | Destabilizing | 0.484 | N | 0.56 | neutral | N | 0.504530857 | None | None | N |
| D/I | 0.2842 | likely_benign | 0.2861 | benign | 0.478 | Stabilizing | 0.555 | D | 0.617 | neutral | None | None | None | None | N |
| D/K | 0.2875 | likely_benign | 0.2921 | benign | -0.473 | Destabilizing | 0.001 | N | 0.205 | neutral | None | None | None | None | N |
| D/L | 0.2555 | likely_benign | 0.2432 | benign | 0.478 | Stabilizing | 0.149 | N | 0.604 | neutral | None | None | None | None | N |
| D/M | 0.4702 | ambiguous | 0.4666 | ambiguous | 0.773 | Stabilizing | 0.935 | D | 0.591 | neutral | None | None | None | None | N |
| D/N | 0.1066 | likely_benign | 0.1039 | benign | -0.681 | Destabilizing | 0.117 | N | 0.419 | neutral | N | 0.504357498 | None | None | N |
| D/P | 0.5186 | ambiguous | 0.5482 | ambiguous | 0.247 | Stabilizing | 0.555 | D | 0.58 | neutral | None | None | None | None | N |
| D/Q | 0.2337 | likely_benign | 0.2345 | benign | -0.568 | Destabilizing | 0.007 | N | 0.261 | neutral | None | None | None | None | N |
| D/R | 0.3529 | ambiguous | 0.3534 | ambiguous | -0.369 | Destabilizing | 0.081 | N | 0.598 | neutral | None | None | None | None | N |
| D/S | 0.0944 | likely_benign | 0.0911 | benign | -0.867 | Destabilizing | 0.081 | N | 0.401 | neutral | None | None | None | None | N |
| D/T | 0.1917 | likely_benign | 0.192 | benign | -0.642 | Destabilizing | 0.149 | N | 0.551 | neutral | None | None | None | None | N |
| D/V | 0.1736 | likely_benign | 0.1747 | benign | 0.247 | Stabilizing | 0.317 | N | 0.604 | neutral | N | 0.491870991 | None | None | N |
| D/W | 0.8571 | likely_pathogenic | 0.8466 | pathogenic | -0.12 | Destabilizing | 0.935 | D | 0.655 | neutral | None | None | None | None | N |
| D/Y | 0.2364 | likely_benign | 0.2209 | benign | 0.013 | Stabilizing | 0.741 | D | 0.605 | neutral | N | 0.47039964 | 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.