Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6313 | 19162;19163;19164 | chr2:178729101;178729100;178729099 | chr2:179593828;179593827;179593826 |
| N2AB | 5996 | 18211;18212;18213 | chr2:178729101;178729100;178729099 | chr2:179593828;179593827;179593826 |
| N2A | 5069 | 15430;15431;15432 | chr2:178729101;178729100;178729099 | chr2:179593828;179593827;179593826 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | None | N | 0.492 | 0.144 | 0.0297737177859 | gnomAD-4.0.0 | 1.59802E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44509E-05 | 0 |
| S/G | rs767114791  |
-1.464 | None | N | 0.281 | 0.058 | 0.0297737177859 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.36E-05 | None | 0 | 0 | 0 |
| S/G | rs767114791 |
-1.464 | None | N | 0.281 | 0.058 | 0.0297737177859 | gnomAD-4.0.0 | 1.59802E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03472E-05 |
| S/T | rs200120672 |
-0.521 | 0.024 | N | 0.587 | 0.166 | None | gnomAD-2.1.1 | 9.39959E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.1488E-03 | 1.84165E-04 | 1.1458E-03 |
| S/T | rs200120672 |
-0.521 | 0.024 | N | 0.587 | 0.166 | None | gnomAD-3.1.2 | 9.07095E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.14921E-02 | 0 | 2.0587E-04 | 0 | 9.5511E-04 |
| S/T | rs200120672 |
-0.521 | 0.024 | N | 0.587 | 0.166 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/T | rs200120672 |
-0.521 | 0.024 | N | 0.587 | 0.166 | None | gnomAD-4.0.0 | 3.58723E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.16154E-03 | 0 | 3.30859E-05 | 0 | 2.88554E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0681 | likely_benign | 0.0608 | benign | -0.927 | Destabilizing | 0.007 | N | 0.446 | neutral | None | None | None | None | N |
| S/C | 0.0629 | likely_benign | 0.0651 | benign | -0.744 | Destabilizing | None | N | 0.492 | neutral | N | 0.224153564 | None | None | N |
| S/D | 0.9457 | likely_pathogenic | 0.9614 | pathogenic | -1.715 | Destabilizing | 0.072 | N | 0.631 | neutral | None | None | None | None | N |
| S/E | 0.9689 | likely_pathogenic | 0.9797 | pathogenic | -1.495 | Destabilizing | 0.136 | N | 0.632 | neutral | None | None | None | None | N |
| S/F | 0.7849 | likely_pathogenic | 0.7779 | pathogenic | -0.593 | Destabilizing | 0.628 | D | 0.797 | deleterious | None | None | None | None | N |
| S/G | 0.0525 | likely_benign | 0.0603 | benign | -1.335 | Destabilizing | None | N | 0.281 | neutral | N | 0.401104553 | None | None | N |
| S/H | 0.9311 | likely_pathogenic | 0.9515 | pathogenic | -1.566 | Destabilizing | 0.628 | D | 0.768 | deleterious | None | None | None | None | N |
| S/I | 0.3074 | likely_benign | 0.368 | ambiguous | 0.125 | Stabilizing | 0.055 | N | 0.751 | deleterious | N | 0.429077801 | None | None | N |
| S/K | 0.9933 | likely_pathogenic | 0.9957 | pathogenic | -0.367 | Destabilizing | 0.072 | N | 0.629 | neutral | None | None | None | None | N |
| S/L | 0.3403 | ambiguous | 0.3233 | benign | 0.125 | Stabilizing | 0.016 | N | 0.689 | prob.neutral | None | None | None | None | N |
| S/M | 0.4057 | ambiguous | 0.4376 | ambiguous | -0.082 | Destabilizing | 0.628 | D | 0.765 | deleterious | None | None | None | None | N |
| S/N | 0.5935 | likely_pathogenic | 0.6643 | pathogenic | -1.143 | Destabilizing | 0.055 | N | 0.627 | neutral | N | 0.468078906 | None | None | N |
| S/P | 0.9534 | likely_pathogenic | 0.9585 | pathogenic | -0.192 | Destabilizing | 0.356 | N | 0.748 | deleterious | None | None | None | None | N |
| S/Q | 0.9566 | likely_pathogenic | 0.9697 | pathogenic | -0.833 | Destabilizing | 0.356 | N | 0.675 | prob.neutral | None | None | None | None | N |
| S/R | 0.9861 | likely_pathogenic | 0.9899 | pathogenic | -0.766 | Destabilizing | 0.295 | N | 0.756 | deleterious | N | 0.449223786 | None | None | N |
| S/T | 0.1185 | likely_benign | 0.1088 | benign | -0.766 | Destabilizing | 0.024 | N | 0.587 | neutral | N | 0.370859003 | None | None | N |
| S/V | 0.2334 | likely_benign | 0.2676 | benign | -0.192 | Destabilizing | 0.072 | N | 0.708 | prob.delet. | None | None | None | None | N |
| S/W | 0.9377 | likely_pathogenic | 0.9449 | pathogenic | -0.903 | Destabilizing | 0.864 | D | 0.824 | deleterious | None | None | None | None | N |
| S/Y | 0.8041 | likely_pathogenic | 0.8267 | pathogenic | -0.45 | Destabilizing | 0.628 | D | 0.804 | 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.