Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17271 | 52036;52037;52038 | chr2:178609499;178609498;178609497 | chr2:179474226;179474225;179474224 |
| N2AB | 15630 | 47113;47114;47115 | chr2:178609499;178609498;178609497 | chr2:179474226;179474225;179474224 |
| N2A | 14703 | 44332;44333;44334 | chr2:178609499;178609498;178609497 | chr2:179474226;179474225;179474224 |
| N2B | 8206 | 24841;24842;24843 | chr2:178609499;178609498;178609497 | chr2:179474226;179474225;179474224 |
| Novex-1 | 8331 | 25216;25217;25218 | chr2:178609499;178609498;178609497 | chr2:179474226;179474225;179474224 |
| Novex-2 | 8398 | 25417;25418;25419 | chr2:178609499;178609498;178609497 | chr2:179474226;179474225;179474224 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs764070559  |
-1.76 | 0.124 | N | 0.753 | 0.47 | 0.683701784845 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| I/T | rs764070559 |
-1.76 | 0.124 | N | 0.753 | 0.47 | 0.683701784845 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs764070559 |
-1.76 | 0.124 | N | 0.753 | 0.47 | 0.683701784845 | gnomAD-4.0.0 | 8.06244E-06 | None | None | None | None | I | None | 1.33679E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48067E-06 | 0 | 3.20616E-05 |
| I/V | rs754159960 |
-0.907 | None | N | 0.258 | 0.052 | 0.356072328145 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| I/V | rs754159960 |
-0.907 | None | N | 0.258 | 0.052 | 0.356072328145 | gnomAD-4.0.0 | 1.59387E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4346E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9218 | likely_pathogenic | 0.9343 | pathogenic | -1.872 | Destabilizing | 0.072 | N | 0.723 | prob.delet. | None | None | None | None | I |
| I/C | 0.9139 | likely_pathogenic | 0.9221 | pathogenic | -1.423 | Destabilizing | 0.909 | D | 0.775 | deleterious | None | None | None | None | I |
| I/D | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -0.709 | Destabilizing | 0.396 | N | 0.831 | deleterious | None | None | None | None | I |
| I/E | 0.9955 | likely_pathogenic | 0.9959 | pathogenic | -0.571 | Destabilizing | 0.567 | D | 0.83 | deleterious | None | None | None | None | I |
| I/F | 0.4279 | ambiguous | 0.4257 | ambiguous | -1.023 | Destabilizing | 0.497 | N | 0.755 | deleterious | N | 0.49954719 | None | None | I |
| I/G | 0.9897 | likely_pathogenic | 0.9916 | pathogenic | -2.328 | Highly Destabilizing | 0.157 | N | 0.813 | deleterious | None | None | None | None | I |
| I/H | 0.9847 | likely_pathogenic | 0.985 | pathogenic | -1.433 | Destabilizing | 0.832 | D | 0.843 | deleterious | None | None | None | None | I |
| I/K | 0.99 | likely_pathogenic | 0.9892 | pathogenic | -1.166 | Destabilizing | 0.396 | N | 0.831 | deleterious | None | None | None | None | I |
| I/L | 0.3073 | likely_benign | 0.3403 | ambiguous | -0.63 | Destabilizing | 0.055 | N | 0.504 | neutral | D | 0.529117949 | None | None | I |
| I/M | 0.455 | ambiguous | 0.4729 | ambiguous | -0.712 | Destabilizing | 0.497 | N | 0.713 | prob.delet. | N | 0.521921882 | None | None | I |
| I/N | 0.9795 | likely_pathogenic | 0.9816 | pathogenic | -1.235 | Destabilizing | 0.002 | N | 0.569 | neutral | D | 0.522428861 | None | None | I |
| I/P | 0.9892 | likely_pathogenic | 0.9902 | pathogenic | -1.016 | Destabilizing | 0.726 | D | 0.857 | deleterious | None | None | None | None | I |
| I/Q | 0.9897 | likely_pathogenic | 0.99 | pathogenic | -1.166 | Destabilizing | 0.567 | D | 0.853 | deleterious | None | None | None | None | I |
| I/R | 0.9806 | likely_pathogenic | 0.98 | pathogenic | -0.867 | Destabilizing | 0.567 | D | 0.857 | deleterious | None | None | None | None | I |
| I/S | 0.96 | likely_pathogenic | 0.962 | pathogenic | -2.099 | Highly Destabilizing | 0.124 | N | 0.795 | deleterious | D | 0.522175371 | None | None | I |
| I/T | 0.9096 | likely_pathogenic | 0.9215 | pathogenic | -1.805 | Destabilizing | 0.124 | N | 0.753 | deleterious | N | 0.502550179 | None | None | I |
| I/V | 0.0876 | likely_benign | 0.0953 | benign | -1.016 | Destabilizing | None | N | 0.258 | neutral | N | 0.473117445 | None | None | I |
| I/W | 0.983 | likely_pathogenic | 0.9824 | pathogenic | -1.118 | Destabilizing | 0.968 | D | 0.825 | deleterious | None | None | None | None | I |
| I/Y | 0.8912 | likely_pathogenic | 0.8806 | pathogenic | -0.871 | Destabilizing | 0.726 | D | 0.793 | deleterious | 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.