Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17274 | 52045;52046;52047 | chr2:178609490;178609489;178609488 | chr2:179474217;179474216;179474215 |
| N2AB | 15633 | 47122;47123;47124 | chr2:178609490;178609489;178609488 | chr2:179474217;179474216;179474215 |
| N2A | 14706 | 44341;44342;44343 | chr2:178609490;178609489;178609488 | chr2:179474217;179474216;179474215 |
| N2B | 8209 | 24850;24851;24852 | chr2:178609490;178609489;178609488 | chr2:179474217;179474216;179474215 |
| Novex-1 | 8334 | 25225;25226;25227 | chr2:178609490;178609489;178609488 | chr2:179474217;179474216;179474215 |
| Novex-2 | 8401 | 25426;25427;25428 | chr2:178609490;178609489;178609488 | chr2:179474217;179474216;179474215 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | None | None | 0.565 | N | 0.617 | 0.313 | 0.653797162166 | gnomAD-4.0.0 | 1.59398E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8627E-06 | 0 | 0 |
| S/T | None | None | 0.722 | D | 0.473 | 0.21 | 0.329282125956 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1203 | likely_benign | 0.1213 | benign | -0.183 | Destabilizing | 0.349 | N | 0.514 | neutral | N | 0.502139204 | None | None | I |
| S/C | 0.0862 | likely_benign | 0.0931 | benign | -0.219 | Destabilizing | 0.996 | D | 0.593 | neutral | None | None | None | None | I |
| S/D | 0.825 | likely_pathogenic | 0.8231 | pathogenic | -0.008 | Destabilizing | 0.775 | D | 0.464 | neutral | None | None | None | None | I |
| S/E | 0.7704 | likely_pathogenic | 0.7805 | pathogenic | -0.101 | Destabilizing | 0.775 | D | 0.464 | neutral | None | None | None | None | I |
| S/F | 0.1492 | likely_benign | 0.1637 | benign | -0.818 | Destabilizing | 0.024 | N | 0.497 | neutral | None | None | None | None | I |
| S/G | 0.293 | likely_benign | 0.2964 | benign | -0.27 | Destabilizing | 0.775 | D | 0.468 | neutral | None | None | None | None | I |
| S/H | 0.3313 | likely_benign | 0.3546 | ambiguous | -0.587 | Destabilizing | 0.996 | D | 0.547 | neutral | None | None | None | None | I |
| S/I | 0.1967 | likely_benign | 0.202 | benign | -0.082 | Destabilizing | 0.923 | D | 0.648 | neutral | None | None | None | None | I |
| S/K | 0.716 | likely_pathogenic | 0.7453 | pathogenic | -0.433 | Destabilizing | 0.775 | D | 0.467 | neutral | None | None | None | None | I |
| S/L | 0.1354 | likely_benign | 0.1414 | benign | -0.082 | Destabilizing | 0.565 | D | 0.617 | neutral | N | 0.519879603 | None | None | I |
| S/M | 0.2236 | likely_benign | 0.2324 | benign | -0.106 | Destabilizing | 0.996 | D | 0.547 | neutral | None | None | None | None | I |
| S/N | 0.2989 | likely_benign | 0.3169 | benign | -0.057 | Destabilizing | 0.961 | D | 0.465 | neutral | None | None | None | None | I |
| S/P | 0.9637 | likely_pathogenic | 0.9632 | pathogenic | -0.089 | Destabilizing | 0.008 | N | 0.381 | neutral | N | 0.505584691 | None | None | I |
| S/Q | 0.5479 | ambiguous | 0.5821 | pathogenic | -0.279 | Destabilizing | 0.961 | D | 0.46 | neutral | None | None | None | None | I |
| S/R | 0.6496 | likely_pathogenic | 0.6839 | pathogenic | -0.155 | Destabilizing | 0.961 | D | 0.554 | neutral | None | None | None | None | I |
| S/T | 0.1287 | likely_benign | 0.1315 | benign | -0.148 | Destabilizing | 0.722 | D | 0.473 | neutral | D | 0.527554937 | None | None | I |
| S/V | 0.2023 | likely_benign | 0.2038 | benign | -0.089 | Destabilizing | 0.923 | D | 0.593 | neutral | None | None | None | None | I |
| S/W | 0.354 | ambiguous | 0.3817 | ambiguous | -0.912 | Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | I |
| S/Y | 0.1425 | likely_benign | 0.1559 | benign | -0.605 | Destabilizing | 0.858 | D | 0.666 | neutral | None | None | 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.