Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29770 | 89533;89534;89535 | chr2:178553697;178553696;178553695 | chr2:179418424;179418423;179418422 |
| N2AB | 28129 | 84610;84611;84612 | chr2:178553697;178553696;178553695 | chr2:179418424;179418423;179418422 |
| N2A | 27202 | 81829;81830;81831 | chr2:178553697;178553696;178553695 | chr2:179418424;179418423;179418422 |
| N2B | 20705 | 62338;62339;62340 | chr2:178553697;178553696;178553695 | chr2:179418424;179418423;179418422 |
| Novex-1 | 20830 | 62713;62714;62715 | chr2:178553697;178553696;178553695 | chr2:179418424;179418423;179418422 |
| Novex-2 | 20897 | 62914;62915;62916 | chr2:178553697;178553696;178553695 | chr2:179418424;179418423;179418422 |
| 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 | rs755018367  |
-1.872 | None | N | 0.258 | 0.077 | 0.392855499163 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 9.96E-05 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| V/A | rs755018367 |
-1.872 | None | N | 0.258 | 0.077 | 0.392855499163 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 2.88018E-04 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/A | rs755018367 |
-1.872 | None | N | 0.258 | 0.077 | 0.392855499163 | gnomAD-4.0.0 | 1.85908E-05 | None | None | None | None | N | None | 1.33465E-05 | 0 | None | 6.75676E-05 | 0 | None | 0 | 0 | 2.11899E-05 | 0 | 3.20236E-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 | 0.1546 | likely_benign | 0.1263 | benign | -1.754 | Destabilizing | None | N | 0.258 | neutral | N | 0.465657565 | None | None | N |
| V/C | 0.5376 | ambiguous | 0.4906 | ambiguous | -1.49 | Destabilizing | 0.824 | D | 0.639 | neutral | None | None | None | None | N |
| V/D | 0.3583 | ambiguous | 0.3046 | benign | -1.697 | Destabilizing | 0.317 | N | 0.657 | neutral | D | 0.522231183 | None | None | N |
| V/E | 0.2557 | likely_benign | 0.2384 | benign | -1.638 | Destabilizing | 0.38 | N | 0.622 | neutral | None | None | None | None | N |
| V/F | 0.1427 | likely_benign | 0.1332 | benign | -1.227 | Destabilizing | 0.317 | N | 0.643 | neutral | N | 0.508821955 | None | None | N |
| V/G | 0.2834 | likely_benign | 0.2324 | benign | -2.129 | Highly Destabilizing | 0.062 | N | 0.603 | neutral | N | 0.49227097 | None | None | N |
| V/H | 0.3658 | ambiguous | 0.3299 | benign | -1.535 | Destabilizing | 0.935 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/I | 0.0677 | likely_benign | 0.0665 | benign | -0.793 | Destabilizing | None | N | 0.229 | neutral | N | 0.45881721 | None | None | N |
| V/K | 0.216 | likely_benign | 0.2004 | benign | -1.405 | Destabilizing | 0.38 | N | 0.617 | neutral | None | None | None | None | N |
| V/L | 0.1252 | likely_benign | 0.1146 | benign | -0.793 | Destabilizing | None | N | 0.273 | neutral | N | 0.486675815 | None | None | N |
| V/M | 0.1019 | likely_benign | 0.0915 | benign | -0.8 | Destabilizing | 0.38 | N | 0.627 | neutral | None | None | None | None | N |
| V/N | 0.2353 | likely_benign | 0.2018 | benign | -1.376 | Destabilizing | 0.38 | N | 0.657 | neutral | None | None | None | None | N |
| V/P | 0.962 | likely_pathogenic | 0.9457 | pathogenic | -1.08 | Destabilizing | 0.555 | D | 0.631 | neutral | None | None | None | None | N |
| V/Q | 0.2389 | likely_benign | 0.2172 | benign | -1.494 | Destabilizing | 0.555 | D | 0.64 | neutral | None | None | None | None | N |
| V/R | 0.1777 | likely_benign | 0.1641 | benign | -0.925 | Destabilizing | 0.38 | N | 0.657 | neutral | None | None | None | None | N |
| V/S | 0.188 | likely_benign | 0.1531 | benign | -1.997 | Destabilizing | 0.081 | N | 0.598 | neutral | None | None | None | None | N |
| V/T | 0.1174 | likely_benign | 0.099 | benign | -1.818 | Destabilizing | 0.001 | N | 0.402 | neutral | None | None | None | None | N |
| V/W | 0.6555 | likely_pathogenic | 0.6158 | pathogenic | -1.427 | Destabilizing | 0.935 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/Y | 0.3924 | ambiguous | 0.3715 | ambiguous | -1.125 | Destabilizing | 0.555 | D | 0.638 | 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.