Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6961 | 21106;21107;21108 | chr2:178724494;178724493;178724492 | chr2:179589221;179589220;179589219 |
| N2AB | 6644 | 20155;20156;20157 | chr2:178724494;178724493;178724492 | chr2:179589221;179589220;179589219 |
| N2A | 5717 | 17374;17375;17376 | chr2:178724494;178724493;178724492 | chr2:179589221;179589220;179589219 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1213182154  |
-0.282 | 0.002 | N | 0.071 | 0.054 | 0.282179105231 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/A | rs1213182154 |
-0.282 | 0.002 | N | 0.071 | 0.054 | 0.282179105231 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/G | rs1213182154 |
-0.37 | 0.379 | N | 0.371 | 0.135 | 0.602507252205 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/G | rs1213182154 |
-0.37 | 0.379 | N | 0.371 | 0.135 | 0.602507252205 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs1213182154 |
-0.37 | 0.379 | N | 0.371 | 0.135 | 0.602507252205 | gnomAD-4.0.0 | 6.57592E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47098E-05 | 0 | 0 |
| V/I | rs1268803689 |
-0.159 | 0.004 | N | 0.219 | 0.094 | 0.276482976112 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1268803689 |
-0.159 | 0.004 | N | 0.219 | 0.094 | 0.276482976112 | gnomAD-4.0.0 | 3.20957E-06 | None | None | None | None | I | None | 0 | 2.29632E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43848E-05 | 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 | 0.0737 | likely_benign | 0.0643 | benign | -0.87 | Destabilizing | 0.002 | N | 0.071 | neutral | N | 0.418959595 | None | None | I |
| V/C | 0.7164 | likely_pathogenic | 0.6638 | pathogenic | -0.77 | Destabilizing | 0.977 | D | 0.241 | neutral | None | None | None | None | I |
| V/D | 0.2517 | likely_benign | 0.2136 | benign | -0.401 | Destabilizing | 0.85 | D | 0.359 | neutral | None | None | None | None | I |
| V/E | 0.1652 | likely_benign | 0.1259 | benign | -0.471 | Destabilizing | 0.379 | N | 0.347 | neutral | N | 0.346133917 | None | None | I |
| V/F | 0.1522 | likely_benign | 0.139 | benign | -0.799 | Destabilizing | 0.85 | D | 0.263 | neutral | None | None | None | None | I |
| V/G | 0.1497 | likely_benign | 0.1304 | benign | -1.088 | Destabilizing | 0.379 | N | 0.371 | neutral | N | 0.456087416 | None | None | I |
| V/H | 0.4457 | ambiguous | 0.3715 | ambiguous | -0.558 | Destabilizing | 0.977 | D | 0.296 | neutral | None | None | None | None | I |
| V/I | 0.0819 | likely_benign | 0.077 | benign | -0.419 | Destabilizing | 0.004 | N | 0.219 | neutral | N | 0.447821064 | None | None | I |
| V/K | 0.2352 | likely_benign | 0.1706 | benign | -0.736 | Destabilizing | 0.447 | N | 0.343 | neutral | None | None | None | None | I |
| V/L | 0.1727 | likely_benign | 0.1404 | benign | -0.419 | Destabilizing | 0.201 | N | 0.31 | neutral | N | 0.430427382 | None | None | I |
| V/M | 0.1145 | likely_benign | 0.0958 | benign | -0.401 | Destabilizing | 0.85 | D | 0.257 | neutral | None | None | None | None | I |
| V/N | 0.211 | likely_benign | 0.1725 | benign | -0.479 | Destabilizing | 0.92 | D | 0.356 | neutral | None | None | None | None | I |
| V/P | 0.3437 | ambiguous | 0.2801 | benign | -0.532 | Destabilizing | 0.92 | D | 0.323 | neutral | None | None | None | None | I |
| V/Q | 0.2239 | likely_benign | 0.1737 | benign | -0.689 | Destabilizing | 0.059 | N | 0.209 | neutral | None | None | None | None | I |
| V/R | 0.1888 | likely_benign | 0.1438 | benign | -0.203 | Destabilizing | 0.85 | D | 0.349 | neutral | None | None | None | None | I |
| V/S | 0.1144 | likely_benign | 0.0977 | benign | -0.958 | Destabilizing | 0.447 | N | 0.318 | neutral | None | None | None | None | I |
| V/T | 0.1015 | likely_benign | 0.0877 | benign | -0.918 | Destabilizing | 0.617 | D | 0.231 | neutral | None | None | None | None | I |
| V/W | 0.6991 | likely_pathogenic | 0.613 | pathogenic | -0.889 | Destabilizing | 0.992 | D | 0.385 | neutral | None | None | None | None | I |
| V/Y | 0.4782 | ambiguous | 0.4017 | ambiguous | -0.605 | Destabilizing | 0.972 | D | 0.261 | 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.