Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30312 | 91159;91160;91161 | chr2:178551966;178551965;178551964 | chr2:179416693;179416692;179416691 |
| N2AB | 28671 | 86236;86237;86238 | chr2:178551966;178551965;178551964 | chr2:179416693;179416692;179416691 |
| N2A | 27744 | 83455;83456;83457 | chr2:178551966;178551965;178551964 | chr2:179416693;179416692;179416691 |
| N2B | 21247 | 63964;63965;63966 | chr2:178551966;178551965;178551964 | chr2:179416693;179416692;179416691 |
| Novex-1 | 21372 | 64339;64340;64341 | chr2:178551966;178551965;178551964 | chr2:179416693;179416692;179416691 |
| Novex-2 | 21439 | 64540;64541;64542 | chr2:178551966;178551965;178551964 | chr2:179416693;179416692;179416691 |
| 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/D | None | None | None | N | 0.47 | 0.248 | 0.52186301387 | gnomAD-4.0.0 | 1.59565E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87051E-06 | 0 | 0 |
| V/F | rs750742292  |
-0.927 | 0.087 | N | 0.49 | 0.101 | 0.713165642198 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23865E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs750742292 |
-0.927 | 0.087 | N | 0.49 | 0.101 | 0.713165642198 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20674E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs750742292 |
-0.927 | 0.087 | N | 0.49 | 0.101 | 0.713165642198 | gnomAD-4.0.0 | 4.34279E-06 | None | None | None | None | N | None | 8.01154E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60323E-05 |
| V/I | rs750742292 |
-0.302 | None | N | 0.228 | 0.058 | 0.388653054685 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs750742292 |
-0.302 | None | N | 0.228 | 0.058 | 0.388653054685 | gnomAD-4.0.0 | 2.74019E-06 | None | None | None | None | N | None | 0 | 6.71081E-05 | None | 0 | 0 | None | 0 | 0 | 9.007E-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 | 0.1172 | likely_benign | 0.1598 | benign | -1.25 | Destabilizing | None | N | 0.295 | neutral | N | 0.429196097 | None | None | N |
| V/C | 0.5496 | ambiguous | 0.6287 | pathogenic | -0.884 | Destabilizing | 0.204 | N | 0.327 | neutral | None | None | None | None | N |
| V/D | 0.1676 | likely_benign | 0.2018 | benign | -0.874 | Destabilizing | None | N | 0.47 | neutral | N | 0.420982045 | None | None | N |
| V/E | 0.1472 | likely_benign | 0.1784 | benign | -0.837 | Destabilizing | 0.007 | N | 0.279 | neutral | None | None | None | None | N |
| V/F | 0.1428 | likely_benign | 0.1732 | benign | -0.822 | Destabilizing | 0.087 | N | 0.49 | neutral | N | 0.501981702 | None | None | N |
| V/G | 0.1811 | likely_benign | 0.2519 | benign | -1.589 | Destabilizing | 0.006 | N | 0.293 | neutral | N | 0.448187289 | None | None | N |
| V/H | 0.3902 | ambiguous | 0.456 | ambiguous | -1.019 | Destabilizing | 0.204 | N | 0.411 | neutral | None | None | None | None | N |
| V/I | 0.0727 | likely_benign | 0.0772 | benign | -0.414 | Destabilizing | None | N | 0.228 | neutral | N | 0.445877703 | None | None | N |
| V/K | 0.2983 | likely_benign | 0.3751 | ambiguous | -1.046 | Destabilizing | 0.015 | N | 0.352 | neutral | None | None | None | None | N |
| V/L | 0.1122 | likely_benign | 0.1343 | benign | -0.414 | Destabilizing | 0.002 | N | 0.305 | neutral | N | 0.445434986 | None | None | N |
| V/M | 0.1208 | likely_benign | 0.1416 | benign | -0.425 | Destabilizing | 0.112 | N | 0.349 | neutral | None | None | None | None | N |
| V/N | 0.1337 | likely_benign | 0.1623 | benign | -0.954 | Destabilizing | None | N | 0.477 | neutral | None | None | None | None | N |
| V/P | 0.2321 | likely_benign | 0.3345 | benign | -0.657 | Destabilizing | 0.035 | N | 0.531 | neutral | None | None | None | None | N |
| V/Q | 0.2311 | likely_benign | 0.2771 | benign | -1.032 | Destabilizing | 0.035 | N | 0.532 | neutral | None | None | None | None | N |
| V/R | 0.313 | likely_benign | 0.3818 | ambiguous | -0.61 | Destabilizing | 0.035 | N | 0.524 | neutral | None | None | None | None | N |
| V/S | 0.122 | likely_benign | 0.1646 | benign | -1.512 | Destabilizing | 0.007 | N | 0.312 | neutral | None | None | None | None | N |
| V/T | 0.1078 | likely_benign | 0.1322 | benign | -1.35 | Destabilizing | None | N | 0.192 | neutral | None | None | None | None | N |
| V/W | 0.7118 | likely_pathogenic | 0.7864 | pathogenic | -1.04 | Destabilizing | 0.747 | D | 0.505 | neutral | None | None | None | None | N |
| V/Y | 0.361 | ambiguous | 0.4325 | ambiguous | -0.712 | Destabilizing | 0.204 | N | 0.464 | 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.