Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24778 | 74557;74558;74559 | chr2:178571800;178571799;178571798 | chr2:179436527;179436526;179436525 |
| N2AB | 23137 | 69634;69635;69636 | chr2:178571800;178571799;178571798 | chr2:179436527;179436526;179436525 |
| N2A | 22210 | 66853;66854;66855 | chr2:178571800;178571799;178571798 | chr2:179436527;179436526;179436525 |
| N2B | 15713 | 47362;47363;47364 | chr2:178571800;178571799;178571798 | chr2:179436527;179436526;179436525 |
| Novex-1 | 15838 | 47737;47738;47739 | chr2:178571800;178571799;178571798 | chr2:179436527;179436526;179436525 |
| Novex-2 | 15905 | 47938;47939;47940 | chr2:178571800;178571799;178571798 | chr2:179436527;179436526;179436525 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs761619474  |
-1.143 | 1.0 | D | 0.802 | 0.58 | 0.648841342166 | gnomAD-4.0.0 | 6.84363E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8747E-05 | 0 | 0 | 0 | 0 |
| A/S | None | None | 1.0 | N | 0.635 | 0.482 | 0.49382923527 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52092E-05 | None | 0 | 0 | 8.99599E-07 | 0 | 0 |
| A/T | rs761619474 |
-1.481 | 1.0 | D | 0.775 | 0.434 | None | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 4.66E-05 | 8.92E-06 | 0 |
| A/T | rs761619474 |
-1.481 | 1.0 | D | 0.775 | 0.434 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs761619474 |
-1.481 | 1.0 | D | 0.775 | 0.434 | None | gnomAD-4.0.0 | 1.48769E-05 | None | None | None | None | N | None | 4.00684E-05 | 0 | None | 0 | 0 | None | 1.56367E-05 | 0 | 1.44118E-05 | 2.19713E-05 | 1.60169E-05 |
| A/V | rs1708284280 |
None | 1.0 | N | 0.715 | 0.414 | 0.505211317368 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1708284280 |
None | 1.0 | N | 0.715 | 0.414 | 0.505211317368 | gnomAD-4.0.0 | 2.56345E-06 | None | None | None | None | N | None | 0 | 1.6952E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84527E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5904 | likely_pathogenic | 0.5981 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/D | 0.9849 | likely_pathogenic | 0.9854 | pathogenic | -2.732 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.552307495 | None | None | N |
| A/E | 0.9825 | likely_pathogenic | 0.9825 | pathogenic | -2.718 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/F | 0.9511 | likely_pathogenic | 0.9453 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/G | 0.3752 | ambiguous | 0.3672 | ambiguous | -1.368 | Destabilizing | 1.0 | D | 0.602 | neutral | D | 0.53394975 | None | None | N |
| A/H | 0.9865 | likely_pathogenic | 0.9867 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/I | 0.5817 | likely_pathogenic | 0.5565 | ambiguous | -0.461 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/K | 0.9943 | likely_pathogenic | 0.9942 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/L | 0.6902 | likely_pathogenic | 0.6799 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/M | 0.7808 | likely_pathogenic | 0.7695 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/N | 0.94 | likely_pathogenic | 0.9395 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/P | 0.905 | likely_pathogenic | 0.9002 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.525809449 | None | None | N |
| A/Q | 0.9751 | likely_pathogenic | 0.9745 | pathogenic | -1.704 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/R | 0.9841 | likely_pathogenic | 0.9836 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/S | 0.1695 | likely_benign | 0.1716 | benign | -1.757 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.514361927 | None | None | N |
| A/T | 0.1828 | likely_benign | 0.1838 | benign | -1.663 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.538873583 | None | None | N |
| A/V | 0.2689 | likely_benign | 0.266 | benign | -0.635 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.480665067 | None | None | N |
| A/W | 0.9963 | likely_pathogenic | 0.9959 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9831 | likely_pathogenic | 0.9818 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.768 | 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.