Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32320 | 97183;97184;97185 | chr2:178542896;178542895;178542894 | chr2:179407623;179407622;179407621 |
| N2AB | 30679 | 92260;92261;92262 | chr2:178542896;178542895;178542894 | chr2:179407623;179407622;179407621 |
| N2A | 29752 | 89479;89480;89481 | chr2:178542896;178542895;178542894 | chr2:179407623;179407622;179407621 |
| N2B | 23255 | 69988;69989;69990 | chr2:178542896;178542895;178542894 | chr2:179407623;179407622;179407621 |
| Novex-1 | 23380 | 70363;70364;70365 | chr2:178542896;178542895;178542894 | chr2:179407623;179407622;179407621 |
| Novex-2 | 23447 | 70564;70565;70566 | chr2:178542896;178542895;178542894 | chr2:179407623;179407622;179407621 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 0.983 | N | 0.429 | 0.249 | 0.242244723065 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | I | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs753692640  |
-0.424 | 0.722 | N | 0.439 | 0.111 | 0.158396225186 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| A/S | rs753692640 |
-0.424 | 0.722 | N | 0.439 | 0.111 | 0.158396225186 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86082E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6321 | likely_pathogenic | 0.6293 | pathogenic | -0.888 | Destabilizing | 0.996 | D | 0.407 | neutral | None | None | None | None | I |
| A/D | 0.8558 | likely_pathogenic | 0.8071 | pathogenic | -0.903 | Destabilizing | 0.949 | D | 0.577 | neutral | N | 0.498615244 | None | None | I |
| A/E | 0.633 | likely_pathogenic | 0.5825 | pathogenic | -1.029 | Destabilizing | 0.775 | D | 0.441 | neutral | None | None | None | None | I |
| A/F | 0.6247 | likely_pathogenic | 0.5864 | pathogenic | -1.118 | Destabilizing | 0.923 | D | 0.579 | neutral | None | None | None | None | I |
| A/G | 0.307 | likely_benign | 0.2835 | benign | -0.806 | Destabilizing | 0.84 | D | 0.385 | neutral | N | 0.47483678 | None | None | I |
| A/H | 0.7604 | likely_pathogenic | 0.7238 | pathogenic | -0.848 | Destabilizing | 0.054 | N | 0.468 | neutral | None | None | None | None | I |
| A/I | 0.3967 | ambiguous | 0.3997 | ambiguous | -0.531 | Destabilizing | 0.675 | D | 0.425 | neutral | None | None | None | None | I |
| A/K | 0.6873 | likely_pathogenic | 0.6342 | pathogenic | -1.044 | Destabilizing | 0.633 | D | 0.459 | neutral | None | None | None | None | I |
| A/L | 0.3839 | ambiguous | 0.365 | ambiguous | -0.531 | Destabilizing | 0.633 | D | 0.443 | neutral | None | None | None | None | I |
| A/M | 0.3943 | ambiguous | 0.386 | ambiguous | -0.423 | Destabilizing | 0.979 | D | 0.441 | neutral | None | None | None | None | I |
| A/N | 0.6249 | likely_pathogenic | 0.5987 | pathogenic | -0.693 | Destabilizing | 0.923 | D | 0.569 | neutral | None | None | None | None | I |
| A/P | 0.8089 | likely_pathogenic | 0.7632 | pathogenic | -0.544 | Destabilizing | 0.983 | D | 0.429 | neutral | N | 0.494420145 | None | None | I |
| A/Q | 0.5346 | ambiguous | 0.5268 | ambiguous | -0.984 | Destabilizing | 0.923 | D | 0.427 | neutral | None | None | None | None | I |
| A/R | 0.5977 | likely_pathogenic | 0.5466 | ambiguous | -0.522 | Destabilizing | 0.011 | N | 0.303 | neutral | None | None | None | None | I |
| A/S | 0.1454 | likely_benign | 0.1484 | benign | -0.937 | Destabilizing | 0.722 | D | 0.439 | neutral | N | 0.481664279 | None | None | I |
| A/T | 0.1865 | likely_benign | 0.162 | benign | -0.984 | Destabilizing | 0.722 | D | 0.409 | neutral | N | 0.491187839 | None | None | I |
| A/V | 0.1779 | likely_benign | 0.185 | benign | -0.544 | Destabilizing | 0.018 | N | 0.301 | neutral | N | 0.449781147 | None | None | I |
| A/W | 0.9452 | likely_pathogenic | 0.9221 | pathogenic | -1.286 | Destabilizing | 0.996 | D | 0.691 | prob.neutral | None | None | None | None | I |
| A/Y | 0.783 | likely_pathogenic | 0.7493 | pathogenic | -0.949 | Destabilizing | 0.923 | D | 0.575 | 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.