Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21045 | 63358;63359;63360 | chr2:178588592;178588591;178588590 | chr2:179453319;179453318;179453317 |
| N2AB | 19404 | 58435;58436;58437 | chr2:178588592;178588591;178588590 | chr2:179453319;179453318;179453317 |
| N2A | 18477 | 55654;55655;55656 | chr2:178588592;178588591;178588590 | chr2:179453319;179453318;179453317 |
| N2B | 11980 | 36163;36164;36165 | chr2:178588592;178588591;178588590 | chr2:179453319;179453318;179453317 |
| Novex-1 | 12105 | 36538;36539;36540 | chr2:178588592;178588591;178588590 | chr2:179453319;179453318;179453317 |
| Novex-2 | 12172 | 36739;36740;36741 | chr2:178588592;178588591;178588590 | chr2:179453319;179453318;179453317 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs878968094  |
-0.61 | 1.0 | D | 0.756 | 0.599 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs878968094 |
-0.61 | 1.0 | D | 0.756 | 0.599 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 1.20726E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs878968094 |
-0.61 | 1.0 | D | 0.756 | 0.599 | None | gnomAD-4.0.0 | 9.65152E-06 | None | None | None | None | I | None | 1.22335E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.924 | 0.571 | 0.79855047619 | gnomAD-4.0.0 | 1.74292E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.08242E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8221 | likely_pathogenic | 0.7965 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.548718962 | None | None | I |
| G/C | 0.9014 | likely_pathogenic | 0.8744 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/D | 0.9592 | likely_pathogenic | 0.9478 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | I |
| G/E | 0.9797 | likely_pathogenic | 0.97 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.566823217 | None | None | I |
| G/F | 0.9908 | likely_pathogenic | 0.9868 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| G/H | 0.9839 | likely_pathogenic | 0.9772 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/I | 0.9901 | likely_pathogenic | 0.9831 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/K | 0.9886 | likely_pathogenic | 0.9831 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/L | 0.9848 | likely_pathogenic | 0.9781 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/M | 0.9906 | likely_pathogenic | 0.9865 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/N | 0.9723 | likely_pathogenic | 0.9623 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9974 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/Q | 0.9758 | likely_pathogenic | 0.964 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | I |
| G/R | 0.9643 | likely_pathogenic | 0.9504 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.924 | deleterious | D | 0.544199511 | None | None | I |
| G/S | 0.6954 | likely_pathogenic | 0.6482 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/T | 0.9351 | likely_pathogenic | 0.9128 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/V | 0.9811 | likely_pathogenic | 0.9703 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.537869635 | None | None | I |
| G/W | 0.9778 | likely_pathogenic | 0.969 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/Y | 0.9837 | likely_pathogenic | 0.9759 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.902 | 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.