Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22413 | 67462;67463;67464 | chr2:178580050;178580049;178580048 | chr2:179444777;179444776;179444775 |
| N2AB | 20772 | 62539;62540;62541 | chr2:178580050;178580049;178580048 | chr2:179444777;179444776;179444775 |
| N2A | 19845 | 59758;59759;59760 | chr2:178580050;178580049;178580048 | chr2:179444777;179444776;179444775 |
| N2B | 13348 | 40267;40268;40269 | chr2:178580050;178580049;178580048 | chr2:179444777;179444776;179444775 |
| Novex-1 | 13473 | 40642;40643;40644 | chr2:178580050;178580049;178580048 | chr2:179444777;179444776;179444775 |
| Novex-2 | 13540 | 40843;40844;40845 | chr2:178580050;178580049;178580048 | chr2:179444777;179444776;179444775 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs2047352976  |
None | 0.014 | N | 0.283 | 0.315 | 0.220303561663 | gnomAD-4.0.0 | 3.42194E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79936E-06 | 3.47858E-05 | 0 |
| F/S | rs769934781 |
-2.788 | 0.97 | N | 0.597 | 0.394 | 0.684819293543 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| F/S | rs769934781 |
-2.788 | 0.97 | N | 0.597 | 0.394 | 0.684819293543 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| F/S | rs769934781 |
-2.788 | 0.97 | N | 0.597 | 0.394 | 0.684819293543 | gnomAD-4.0.0 | 1.1537E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15516E-05 | 0 | 0 |
| F/V | None | None | 0.698 | N | 0.489 | 0.42 | 0.560190409015 | gnomAD-4.0.0 | 6.84389E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99679E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.8957 | likely_pathogenic | 0.8494 | pathogenic | -1.962 | Destabilizing | 0.86 | D | 0.545 | neutral | None | None | None | None | N |
| F/C | 0.4667 | ambiguous | 0.4124 | ambiguous | -0.967 | Destabilizing | 0.997 | D | 0.732 | prob.delet. | N | 0.47134379 | None | None | N |
| F/D | 0.9864 | likely_pathogenic | 0.9794 | pathogenic | -1.741 | Destabilizing | 0.993 | D | 0.771 | deleterious | None | None | None | None | N |
| F/E | 0.9855 | likely_pathogenic | 0.9763 | pathogenic | -1.555 | Destabilizing | 0.978 | D | 0.739 | prob.delet. | None | None | None | None | N |
| F/G | 0.9628 | likely_pathogenic | 0.9436 | pathogenic | -2.366 | Highly Destabilizing | 0.978 | D | 0.664 | neutral | None | None | None | None | N |
| F/H | 0.7936 | likely_pathogenic | 0.7567 | pathogenic | -0.793 | Destabilizing | 0.956 | D | 0.662 | neutral | None | None | None | None | N |
| F/I | 0.5762 | likely_pathogenic | 0.462 | ambiguous | -0.689 | Destabilizing | 0.698 | D | 0.424 | neutral | N | 0.470470185 | None | None | N |
| F/K | 0.9826 | likely_pathogenic | 0.9704 | pathogenic | -1.392 | Destabilizing | 0.978 | D | 0.735 | prob.delet. | None | None | None | None | N |
| F/L | 0.9347 | likely_pathogenic | 0.9057 | pathogenic | -0.689 | Destabilizing | 0.014 | N | 0.283 | neutral | N | 0.503472064 | None | None | N |
| F/M | 0.7848 | likely_pathogenic | 0.7095 | pathogenic | -0.39 | Destabilizing | 0.956 | D | 0.501 | neutral | None | None | None | None | N |
| F/N | 0.9485 | likely_pathogenic | 0.9325 | pathogenic | -1.816 | Destabilizing | 0.978 | D | 0.789 | deleterious | None | None | None | None | N |
| F/P | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -1.116 | Destabilizing | 0.993 | D | 0.789 | deleterious | None | None | None | None | N |
| F/Q | 0.9513 | likely_pathogenic | 0.9287 | pathogenic | -1.719 | Destabilizing | 0.993 | D | 0.79 | deleterious | None | None | None | None | N |
| F/R | 0.9563 | likely_pathogenic | 0.934 | pathogenic | -1.029 | Destabilizing | 0.978 | D | 0.787 | deleterious | None | None | None | None | N |
| F/S | 0.8583 | likely_pathogenic | 0.8051 | pathogenic | -2.471 | Highly Destabilizing | 0.97 | D | 0.597 | neutral | N | 0.4868926 | None | None | N |
| F/T | 0.9126 | likely_pathogenic | 0.8645 | pathogenic | -2.181 | Highly Destabilizing | 0.956 | D | 0.604 | neutral | None | None | None | None | N |
| F/V | 0.5448 | ambiguous | 0.4279 | ambiguous | -1.116 | Destabilizing | 0.698 | D | 0.489 | neutral | N | 0.512358119 | None | None | N |
| F/W | 0.5411 | ambiguous | 0.5124 | ambiguous | 0.215 | Stabilizing | 0.994 | D | 0.507 | neutral | None | None | None | None | N |
| F/Y | 0.1698 | likely_benign | 0.1537 | benign | -0.069 | Destabilizing | 0.014 | N | 0.373 | neutral | N | 0.429915668 | 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.