Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34146 | 102661;102662;102663 | chr2:178534179;178534178;178534177 | chr2:179398906;179398905;179398904 |
| N2AB | 32505 | 97738;97739;97740 | chr2:178534179;178534178;178534177 | chr2:179398906;179398905;179398904 |
| N2A | 31578 | 94957;94958;94959 | chr2:178534179;178534178;178534177 | chr2:179398906;179398905;179398904 |
| N2B | 25081 | 75466;75467;75468 | chr2:178534179;178534178;178534177 | chr2:179398906;179398905;179398904 |
| Novex-1 | 25206 | 75841;75842;75843 | chr2:178534179;178534178;178534177 | chr2:179398906;179398905;179398904 |
| Novex-2 | 25273 | 76042;76043;76044 | chr2:178534179;178534178;178534177 | chr2:179398906;179398905;179398904 |
| 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/A | rs1690411709  |
None | 0.027 | N | 0.367 | 0.13 | 0.612226609336 | gnomAD-4.0.0 | 6.84154E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99412E-07 | 0 | 0 |
| V/F | None | None | None | N | 0.191 | 0.157 | 0.67588895853 | gnomAD-4.0.0 | 1.36831E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87273E-05 | 0 | 8.99416E-07 | 0 | 0 |
| V/G | rs1690411709 |
None | 0.117 | D | 0.421 | 0.204 | 0.672922844732 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1690411709 |
None | 0.117 | D | 0.421 | 0.204 | 0.672922844732 | gnomAD-4.0.0 | 1.23933E-06 | None | None | None | None | I | None | 1.33543E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47562E-07 | 0 | 0 |
| V/I | rs1690412972 |
None | None | N | 0.103 | 0.132 | 0.470890129789 | gnomAD-4.0.0 | 6.84156E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| V/L | None | None | 0.004 | N | 0.283 | 0.139 | 0.524533156562 | gnomAD-4.0.0 | 6.84156E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99416E-07 | 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 | 0.1567 | likely_benign | 0.1643 | benign | -0.81 | Destabilizing | 0.027 | N | 0.367 | neutral | N | 0.51583922 | None | None | I |
| V/C | 0.7752 | likely_pathogenic | 0.81 | pathogenic | -0.681 | Destabilizing | 0.001 | N | 0.215 | neutral | None | None | None | None | I |
| V/D | 0.4693 | ambiguous | 0.5771 | pathogenic | -0.412 | Destabilizing | 0.317 | N | 0.401 | neutral | N | 0.483209514 | None | None | I |
| V/E | 0.3341 | likely_benign | 0.3935 | ambiguous | -0.453 | Destabilizing | 0.38 | N | 0.391 | neutral | None | None | None | None | I |
| V/F | 0.2007 | likely_benign | 0.2491 | benign | -0.647 | Destabilizing | None | N | 0.191 | neutral | N | 0.517572804 | None | None | I |
| V/G | 0.3257 | likely_benign | 0.3749 | ambiguous | -1.044 | Destabilizing | 0.117 | N | 0.421 | neutral | D | 0.536081207 | None | None | I |
| V/H | 0.618 | likely_pathogenic | 0.695 | pathogenic | -0.438 | Destabilizing | 0.935 | D | 0.353 | neutral | None | None | None | None | I |
| V/I | 0.0827 | likely_benign | 0.0865 | benign | -0.302 | Destabilizing | None | N | 0.103 | neutral | N | 0.480054565 | None | None | I |
| V/K | 0.3893 | ambiguous | 0.4715 | ambiguous | -0.709 | Destabilizing | 0.38 | N | 0.391 | neutral | None | None | None | None | I |
| V/L | 0.2299 | likely_benign | 0.2641 | benign | -0.302 | Destabilizing | 0.004 | N | 0.283 | neutral | N | 0.464797111 | None | None | I |
| V/M | 0.1727 | likely_benign | 0.1951 | benign | -0.397 | Destabilizing | 0.38 | N | 0.373 | neutral | None | None | None | None | I |
| V/N | 0.3437 | ambiguous | 0.4293 | ambiguous | -0.519 | Destabilizing | 0.38 | N | 0.396 | neutral | None | None | None | None | I |
| V/P | 0.7786 | likely_pathogenic | 0.7868 | pathogenic | -0.435 | Destabilizing | 0.555 | D | 0.367 | neutral | None | None | None | None | I |
| V/Q | 0.3899 | ambiguous | 0.44 | ambiguous | -0.677 | Destabilizing | 0.555 | D | 0.364 | neutral | None | None | None | None | I |
| V/R | 0.3216 | likely_benign | 0.39 | ambiguous | -0.208 | Destabilizing | 0.555 | D | 0.385 | neutral | None | None | None | None | I |
| V/S | 0.2073 | likely_benign | 0.2392 | benign | -0.982 | Destabilizing | 0.007 | N | 0.242 | neutral | None | None | None | None | I |
| V/T | 0.1468 | likely_benign | 0.1674 | benign | -0.911 | Destabilizing | 0.081 | N | 0.293 | neutral | None | None | None | None | I |
| V/W | 0.8351 | likely_pathogenic | 0.8753 | pathogenic | -0.779 | Destabilizing | 0.935 | D | 0.366 | neutral | None | None | None | None | I |
| V/Y | 0.5849 | likely_pathogenic | 0.675 | pathogenic | -0.482 | Destabilizing | 0.235 | N | 0.393 | 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.