Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31131 | 93616;93617;93618 | chr2:178548235;178548234;178548233 | chr2:179412962;179412961;179412960 |
| N2AB | 29490 | 88693;88694;88695 | chr2:178548235;178548234;178548233 | chr2:179412962;179412961;179412960 |
| N2A | 28563 | 85912;85913;85914 | chr2:178548235;178548234;178548233 | chr2:179412962;179412961;179412960 |
| N2B | 22066 | 66421;66422;66423 | chr2:178548235;178548234;178548233 | chr2:179412962;179412961;179412960 |
| Novex-1 | 22191 | 66796;66797;66798 | chr2:178548235;178548234;178548233 | chr2:179412962;179412961;179412960 |
| Novex-2 | 22258 | 66997;66998;66999 | chr2:178548235;178548234;178548233 | chr2:179412962;179412961;179412960 |
| 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/G | rs1176407616  |
-2.133 | 0.669 | N | 0.551 | 0.197 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| V/G | rs1176407616 |
-2.133 | 0.669 | N | 0.551 | 0.197 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 1.31044E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/G | rs1176407616 |
-2.133 | 0.669 | N | 0.551 | 0.197 | None | gnomAD-4.0.0 | 1.79706E-05 | None | None | None | None | N | None | 0 | 6.66933E-05 | None | 0 | 0 | None | 0 | 0 | 2.03419E-05 | 0 | 1.60097E-05 |
| V/I | None | None | 0.454 | N | 0.463 | 0.093 | 0.379366414296 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.135 | likely_benign | 0.1609 | benign | -1.504 | Destabilizing | 0.267 | N | 0.325 | neutral | N | 0.448909647 | None | None | N |
| V/C | 0.6227 | likely_pathogenic | 0.6541 | pathogenic | -1.217 | Destabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | N |
| V/D | 0.3183 | likely_benign | 0.3683 | ambiguous | -1.462 | Destabilizing | 0.669 | D | 0.56 | neutral | N | 0.442426392 | None | None | N |
| V/E | 0.229 | likely_benign | 0.2472 | benign | -1.473 | Destabilizing | 0.016 | N | 0.449 | neutral | None | None | None | None | N |
| V/F | 0.1276 | likely_benign | 0.1443 | benign | -1.301 | Destabilizing | 0.934 | D | 0.567 | neutral | N | 0.470786429 | None | None | N |
| V/G | 0.2129 | likely_benign | 0.2452 | benign | -1.801 | Destabilizing | 0.669 | D | 0.551 | neutral | N | 0.468631558 | None | None | N |
| V/H | 0.368 | ambiguous | 0.4122 | ambiguous | -1.308 | Destabilizing | 0.974 | D | 0.589 | neutral | None | None | None | None | N |
| V/I | 0.0714 | likely_benign | 0.0792 | benign | -0.792 | Destabilizing | 0.454 | N | 0.463 | neutral | N | 0.436692498 | None | None | N |
| V/K | 0.2601 | likely_benign | 0.2596 | benign | -1.137 | Destabilizing | 0.728 | D | 0.52 | neutral | None | None | None | None | N |
| V/L | 0.1317 | likely_benign | 0.1469 | benign | -0.792 | Destabilizing | 0.005 | N | 0.235 | neutral | N | 0.448389572 | None | None | N |
| V/M | 0.0998 | likely_benign | 0.1117 | benign | -0.668 | Destabilizing | 0.949 | D | 0.567 | neutral | None | None | None | None | N |
| V/N | 0.1851 | likely_benign | 0.2334 | benign | -0.976 | Destabilizing | 0.842 | D | 0.563 | neutral | None | None | None | None | N |
| V/P | 0.9089 | likely_pathogenic | 0.9074 | pathogenic | -0.996 | Destabilizing | 0.974 | D | 0.57 | neutral | None | None | None | None | N |
| V/Q | 0.213 | likely_benign | 0.2306 | benign | -1.197 | Destabilizing | 0.904 | D | 0.565 | neutral | None | None | None | None | N |
| V/R | 0.2481 | likely_benign | 0.2417 | benign | -0.633 | Destabilizing | 0.949 | D | 0.586 | neutral | None | None | None | None | N |
| V/S | 0.1213 | likely_benign | 0.1529 | benign | -1.514 | Destabilizing | 0.029 | N | 0.437 | neutral | None | None | None | None | N |
| V/T | 0.0931 | likely_benign | 0.1123 | benign | -1.418 | Destabilizing | 0.525 | D | 0.437 | neutral | None | None | None | None | N |
| V/W | 0.7357 | likely_pathogenic | 0.7536 | pathogenic | -1.446 | Destabilizing | 0.998 | D | 0.629 | neutral | None | None | None | None | N |
| V/Y | 0.4133 | ambiguous | 0.4455 | ambiguous | -1.14 | Destabilizing | 0.991 | D | 0.565 | 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.