Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24866 | 74821;74822;74823 | chr2:178571536;178571535;178571534 | chr2:179436263;179436262;179436261 |
| N2AB | 23225 | 69898;69899;69900 | chr2:178571536;178571535;178571534 | chr2:179436263;179436262;179436261 |
| N2A | 22298 | 67117;67118;67119 | chr2:178571536;178571535;178571534 | chr2:179436263;179436262;179436261 |
| N2B | 15801 | 47626;47627;47628 | chr2:178571536;178571535;178571534 | chr2:179436263;179436262;179436261 |
| Novex-1 | 15926 | 48001;48002;48003 | chr2:178571536;178571535;178571534 | chr2:179436263;179436262;179436261 |
| Novex-2 | 15993 | 48202;48203;48204 | chr2:178571536;178571535;178571534 | chr2:179436263;179436262;179436261 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs199784966  |
-0.9 | 0.999 | N | 0.501 | 0.448 | None | gnomAD-2.1.1 | 2.04577E-04 | None | None | None | None | N | None | 2.27574E-03 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.41123E-04 |
| T/A | rs199784966 |
-0.9 | 0.999 | N | 0.501 | 0.448 | None | gnomAD-3.1.2 | 5.85126E-04 | None | None | None | None | N | None | 2.12355E-03 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs199784966 |
-0.9 | 0.999 | N | 0.501 | 0.448 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/A | rs199784966 |
-0.9 | 0.999 | N | 0.501 | 0.448 | None | gnomAD-4.0.0 | 1.10953E-04 | None | None | None | None | N | None | 2.27957E-03 | 3.33489E-05 | None | 0 | 0 | None | 0 | 1.65125E-04 | 1.69552E-06 | 0 | 4.80369E-05 |
| T/K | None | None | 1.0 | N | 0.751 | 0.5 | 0.487277728379 | gnomAD-4.0.0 | 2.05348E-06 | None | None | None | None | N | None | 2.98918E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7994E-06 | 0 | 0 |
| T/R | rs940915212 |
None | 1.0 | N | 0.765 | 0.508 | 0.62347134366 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 4.59016E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| T/R | rs940915212 |
None | 1.0 | N | 0.765 | 0.508 | 0.62347134366 | gnomAD-4.0.0 | 7.43989E-06 | None | None | None | None | N | None | 0 | 1.5017E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.806E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2724 | likely_benign | 0.2675 | benign | -0.902 | Destabilizing | 0.999 | D | 0.501 | neutral | N | 0.498475942 | None | None | N |
| T/C | 0.5318 | ambiguous | 0.4876 | ambiguous | -0.447 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/D | 0.8345 | likely_pathogenic | 0.8195 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/E | 0.7754 | likely_pathogenic | 0.7651 | pathogenic | 0.371 | Stabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| T/F | 0.8995 | likely_pathogenic | 0.8666 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| T/G | 0.5648 | likely_pathogenic | 0.5272 | ambiguous | -1.222 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/H | 0.7012 | likely_pathogenic | 0.6564 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/I | 0.8374 | likely_pathogenic | 0.799 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.511224599 | None | None | N |
| T/K | 0.6182 | likely_pathogenic | 0.5976 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.485638379 | None | None | N |
| T/L | 0.3246 | likely_benign | 0.2714 | benign | -0.109 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| T/M | 0.2183 | likely_benign | 0.1961 | benign | -0.157 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/N | 0.2291 | likely_benign | 0.1976 | benign | -0.392 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/P | 0.2089 | likely_benign | 0.1996 | benign | -0.342 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.47756053 | None | None | N |
| T/Q | 0.5402 | ambiguous | 0.509 | ambiguous | -0.3 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/R | 0.5507 | ambiguous | 0.5299 | ambiguous | -0.085 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.480332007 | None | None | N |
| T/S | 0.3059 | likely_benign | 0.3032 | benign | -0.817 | Destabilizing | 0.999 | D | 0.472 | neutral | N | 0.488663346 | None | None | N |
| T/V | 0.6044 | likely_pathogenic | 0.5661 | pathogenic | -0.342 | Destabilizing | 0.999 | D | 0.521 | neutral | None | None | None | None | N |
| T/W | 0.9704 | likely_pathogenic | 0.9604 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| T/Y | 0.8369 | likely_pathogenic | 0.8013 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.797 | deleterious | 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.