Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
| N2AB | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
| N2A | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
| N2B | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
| Novex-1 | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
| Novex-2 | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
| Novex-3 | 107 | 544;545;546 | chr2:178800659;178800658;178800657 | chr2:179665386;179665385;179665384 |
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/F | None | None | 0.034 | D | 0.367 | 0.187 | 0.549290840505 | gnomAD-4.0.0 | 6.86168E-07 | None | None | None | 0.209(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01183E-07 | 0 | 0 |
| V/I | rs755127321  |
-0.266 | None | N | 0.093 | 0.15 | 0.221019684889 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | -0.476(TCAP) | N | None | 0 | 8.77E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/I | rs755127321 |
-0.266 | None | N | 0.093 | 0.15 | 0.221019684889 | gnomAD-4.0.0 | 4.11701E-06 | None | None | None | -0.476(TCAP) | N | None | 0 | 4.50005E-05 | None | 0 | 0 | None | 0 | 0 | 2.70355E-06 | 0 | 1.66174E-05 |
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 | 0.1189 | likely_benign | 0.1357 | benign | -0.971 | Destabilizing | None | N | 0.109 | neutral | D | 0.557848719 | None | -0.421(TCAP) | N |
| V/C | 0.7672 | likely_pathogenic | 0.7667 | pathogenic | -0.628 | Destabilizing | 0.124 | N | 0.331 | neutral | None | None | None | 0.045(TCAP) | N |
| V/D | 0.3354 | likely_benign | 0.373 | ambiguous | -0.864 | Destabilizing | 0.018 | N | 0.345 | neutral | D | 0.61715234 | None | 0.047(TCAP) | N |
| V/E | 0.2281 | likely_benign | 0.2482 | benign | -0.953 | Destabilizing | 0.004 | N | 0.303 | neutral | None | None | None | -0.034(TCAP) | N |
| V/F | 0.1825 | likely_benign | 0.2061 | benign | -0.976 | Destabilizing | 0.034 | N | 0.367 | neutral | D | 0.642009109 | None | 0.209(TCAP) | N |
| V/G | 0.2371 | likely_benign | 0.2486 | benign | -1.175 | Destabilizing | 0.01 | N | 0.252 | neutral | D | 0.61056356 | None | -0.406(TCAP) | N |
| V/H | 0.4812 | ambiguous | 0.5092 | ambiguous | -0.663 | Destabilizing | 0.158 | N | 0.343 | neutral | None | None | None | 0.544(TCAP) | N |
| V/I | 0.0747 | likely_benign | 0.0772 | benign | -0.556 | Destabilizing | None | N | 0.093 | neutral | N | 0.504176588 | None | -0.476(TCAP) | N |
| V/K | 0.3237 | likely_benign | 0.3368 | benign | -0.858 | Destabilizing | 0.009 | N | 0.267 | neutral | None | None | None | -0.287(TCAP) | N |
| V/L | 0.1404 | likely_benign | 0.1582 | benign | -0.556 | Destabilizing | None | N | 0.077 | neutral | N | 0.498308001 | None | -0.476(TCAP) | N |
| V/M | 0.153 | likely_benign | 0.1684 | benign | -0.382 | Destabilizing | 0.085 | N | 0.283 | neutral | None | None | None | -0.134(TCAP) | N |
| V/N | 0.1818 | likely_benign | 0.209 | benign | -0.521 | Destabilizing | 0.001 | N | 0.406 | neutral | None | None | None | -0.3(TCAP) | N |
| V/P | 0.506 | ambiguous | 0.5007 | ambiguous | -0.659 | Destabilizing | 0.003 | N | 0.376 | neutral | None | None | None | -0.456(TCAP) | N |
| V/Q | 0.2373 | likely_benign | 0.2527 | benign | -0.8 | Destabilizing | 0.041 | N | 0.439 | neutral | None | None | None | -0.194(TCAP) | N |
| V/R | 0.2532 | likely_benign | 0.2569 | benign | -0.218 | Destabilizing | 0.036 | N | 0.445 | neutral | None | None | None | -0.452(TCAP) | N |
| V/S | 0.1024 | likely_benign | 0.1153 | benign | -0.912 | Destabilizing | None | N | 0.138 | neutral | None | None | None | -0.071(TCAP) | N |
| V/T | 0.0911 | likely_benign | 0.101 | benign | -0.905 | Destabilizing | None | N | 0.083 | neutral | None | None | None | -0.132(TCAP) | N |
| V/W | 0.8105 | likely_pathogenic | 0.8242 | pathogenic | -1.065 | Destabilizing | 0.89 | D | 0.355 | neutral | None | None | None | 0.275(TCAP) | N |
| V/Y | 0.5143 | ambiguous | 0.5398 | ambiguous | -0.8 | Destabilizing | 0.208 | N | 0.407 | neutral | None | None | None | 0.188(TCAP) | 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.