Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17730 | 53413;53414;53415 | chr2:178607500;178607499;178607498 | chr2:179472227;179472226;179472225 |
| N2AB | 16089 | 48490;48491;48492 | chr2:178607500;178607499;178607498 | chr2:179472227;179472226;179472225 |
| N2A | 15162 | 45709;45710;45711 | chr2:178607500;178607499;178607498 | chr2:179472227;179472226;179472225 |
| N2B | 8665 | 26218;26219;26220 | chr2:178607500;178607499;178607498 | chr2:179472227;179472226;179472225 |
| Novex-1 | 8790 | 26593;26594;26595 | chr2:178607500;178607499;178607498 | chr2:179472227;179472226;179472225 |
| Novex-2 | 8857 | 26794;26795;26796 | chr2:178607500;178607499;178607498 | chr2:179472227;179472226;179472225 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1337110210  |
-2.721 | None | N | 0.353 | 0.129 | 0.542587012665 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1337110210 |
-2.721 | None | N | 0.353 | 0.129 | 0.542587012665 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1337110210 |
-2.721 | None | N | 0.353 | 0.129 | 0.542587012665 | gnomAD-4.0.0 | 6.58042E-06 | None | None | None | None | N | None | 2.41313E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | None | None | None | N | 0.162 | 0.081 | 0.367612772649 | gnomAD-4.0.0 | 3.18454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72141E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3893 | ambiguous | 0.392 | ambiguous | -2.525 | Highly Destabilizing | None | N | 0.338 | neutral | None | None | None | None | N |
| I/C | 0.6273 | likely_pathogenic | 0.6325 | pathogenic | -1.739 | Destabilizing | 0.356 | N | 0.619 | neutral | None | None | None | None | N |
| I/D | 0.7762 | likely_pathogenic | 0.8037 | pathogenic | -2.88 | Highly Destabilizing | 0.016 | N | 0.617 | neutral | None | None | None | None | N |
| I/E | 0.554 | ambiguous | 0.5529 | ambiguous | -2.712 | Highly Destabilizing | None | N | 0.48 | neutral | None | None | None | None | N |
| I/F | 0.2038 | likely_benign | 0.1984 | benign | -1.511 | Destabilizing | 0.055 | N | 0.569 | neutral | N | 0.460273939 | None | None | N |
| I/G | 0.7715 | likely_pathogenic | 0.7838 | pathogenic | -2.996 | Highly Destabilizing | 0.031 | N | 0.6 | neutral | None | None | None | None | N |
| I/H | 0.4509 | ambiguous | 0.4487 | ambiguous | -2.402 | Highly Destabilizing | 0.628 | D | 0.625 | neutral | None | None | None | None | N |
| I/K | 0.3783 | ambiguous | 0.4079 | ambiguous | -2.115 | Highly Destabilizing | 0.031 | N | 0.609 | neutral | None | None | None | None | N |
| I/L | 0.1443 | likely_benign | 0.1486 | benign | -1.185 | Destabilizing | 0.002 | N | 0.383 | neutral | N | 0.443496333 | None | None | N |
| I/M | 0.1294 | likely_benign | 0.1268 | benign | -1.072 | Destabilizing | 0.171 | N | 0.578 | neutral | N | 0.505603584 | None | None | N |
| I/N | 0.2845 | likely_benign | 0.3175 | benign | -2.298 | Highly Destabilizing | 0.055 | N | 0.645 | neutral | N | 0.493386435 | None | None | N |
| I/P | 0.9801 | likely_pathogenic | 0.9821 | pathogenic | -1.612 | Destabilizing | 0.136 | N | 0.637 | neutral | None | None | None | None | N |
| I/Q | 0.4048 | ambiguous | 0.4248 | ambiguous | -2.259 | Highly Destabilizing | 0.072 | N | 0.649 | neutral | None | None | None | None | N |
| I/R | 0.3204 | likely_benign | 0.3398 | benign | -1.642 | Destabilizing | 0.072 | N | 0.649 | neutral | None | None | None | None | N |
| I/S | 0.2875 | likely_benign | 0.2977 | benign | -2.911 | Highly Destabilizing | 0.001 | N | 0.411 | neutral | N | 0.447440715 | None | None | N |
| I/T | 0.1713 | likely_benign | 0.1517 | benign | -2.626 | Highly Destabilizing | None | N | 0.353 | neutral | N | 0.415229509 | None | None | N |
| I/V | 0.0996 | likely_benign | 0.0848 | benign | -1.612 | Destabilizing | None | N | 0.162 | neutral | N | 0.453115893 | None | None | N |
| I/W | 0.769 | likely_pathogenic | 0.7457 | pathogenic | -1.893 | Destabilizing | 0.864 | D | 0.641 | neutral | None | None | None | None | N |
| I/Y | 0.4496 | ambiguous | 0.4741 | ambiguous | -1.639 | Destabilizing | 0.356 | N | 0.671 | 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.