Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26595 | 80008;80009;80010 | chr2:178566349;178566348;178566347 | chr2:179431076;179431075;179431074 |
| N2AB | 24954 | 75085;75086;75087 | chr2:178566349;178566348;178566347 | chr2:179431076;179431075;179431074 |
| N2A | 24027 | 72304;72305;72306 | chr2:178566349;178566348;178566347 | chr2:179431076;179431075;179431074 |
| N2B | 17530 | 52813;52814;52815 | chr2:178566349;178566348;178566347 | chr2:179431076;179431075;179431074 |
| Novex-1 | 17655 | 53188;53189;53190 | chr2:178566349;178566348;178566347 | chr2:179431076;179431075;179431074 |
| Novex-2 | 17722 | 53389;53390;53391 | chr2:178566349;178566348;178566347 | chr2:179431076;179431075;179431074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | D | 0.767 | 0.585 | 0.473143432122 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85889E-06 | 0 | 0 |
| D/H | rs56307213  |
0.344 | 1.0 | D | 0.777 | 0.689 | None | gnomAD-2.1.1 | 1.48054E-02 | None | None | None | None | N | None | 3.51327E-03 | 1.01244E-02 | None | 8.60402E-03 | 1.53909E-04 | None | 1.09143E-02 | None | 2.19151E-02 | 2.04102E-02 | 1.65637E-02 |
| D/H | rs56307213 |
0.344 | 1.0 | D | 0.777 | 0.689 | None | gnomAD-3.1.2 | 1.44498E-02 | None | None | None | None | N | None | 4.17572E-03 | 1.45803E-02 | 3.28947E-03 | 1.03687E-02 | 3.87297E-04 | None | 2.15672E-02 | 9.49367E-03 | 2.13267E-02 | 1.1194E-02 | 1.19503E-02 |
| D/H | rs56307213 |
0.344 | 1.0 | D | 0.777 | 0.689 | None | 1000 genomes | 7.38818E-03 | None | None | None | None | N | None | 0 | 8.6E-03 | None | None | 0 | 2.49E-02 | None | None | None | 6.1E-03 | None |
| D/H | rs56307213 |
0.344 | 1.0 | D | 0.777 | 0.689 | None | gnomAD-4.0.0 | 1.75566E-02 | None | None | None | None | N | None | 3.69274E-03 | 1.19075E-02 | None | 9.22422E-03 | 8.921E-05 | None | 2.36203E-02 | 1.1555E-02 | 1.98895E-02 | 1.11009E-02 | 1.60557E-02 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6157 | likely_pathogenic | 0.6094 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.5179645 | None | None | N |
| D/C | 0.9175 | likely_pathogenic | 0.9131 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/E | 0.6926 | likely_pathogenic | 0.6669 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.537 | neutral | N | 0.516190074 | None | None | N |
| D/F | 0.9423 | likely_pathogenic | 0.9378 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/G | 0.5799 | likely_pathogenic | 0.5676 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.536068755 | None | None | N |
| D/H | 0.8097 | likely_pathogenic | 0.7786 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.777 | deleterious | D | 0.537082714 | None | None | N |
| D/I | 0.9088 | likely_pathogenic | 0.9096 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/K | 0.9406 | likely_pathogenic | 0.9339 | pathogenic | 0.39 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/L | 0.8501 | likely_pathogenic | 0.8403 | pathogenic | 0.213 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/M | 0.9616 | likely_pathogenic | 0.9603 | pathogenic | 0.27 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/N | 0.4502 | ambiguous | 0.4325 | ambiguous | -0.038 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.523191513 | None | None | N |
| D/P | 0.8528 | likely_pathogenic | 0.8515 | pathogenic | 0.076 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Q | 0.8829 | likely_pathogenic | 0.8755 | pathogenic | 0.014 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/R | 0.9281 | likely_pathogenic | 0.924 | pathogenic | 0.611 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/S | 0.4446 | ambiguous | 0.428 | ambiguous | -0.129 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/T | 0.7609 | likely_pathogenic | 0.749 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/V | 0.7651 | likely_pathogenic | 0.7615 | pathogenic | 0.076 | Stabilizing | 1.0 | D | 0.817 | deleterious | D | 0.537336203 | None | None | N |
| D/W | 0.9889 | likely_pathogenic | 0.9891 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/Y | 0.738 | likely_pathogenic | 0.7277 | pathogenic | 0.152 | Stabilizing | 1.0 | D | 0.831 | deleterious | D | 0.537589693 | 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.