Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17464 | 52615;52616;52617 | chr2:178608621;178608620;178608619 | chr2:179473348;179473347;179473346 |
| N2AB | 15823 | 47692;47693;47694 | chr2:178608621;178608620;178608619 | chr2:179473348;179473347;179473346 |
| N2A | 14896 | 44911;44912;44913 | chr2:178608621;178608620;178608619 | chr2:179473348;179473347;179473346 |
| N2B | 8399 | 25420;25421;25422 | chr2:178608621;178608620;178608619 | chr2:179473348;179473347;179473346 |
| Novex-1 | 8524 | 25795;25796;25797 | chr2:178608621;178608620;178608619 | chr2:179473348;179473347;179473346 |
| Novex-2 | 8591 | 25996;25997;25998 | chr2:178608621;178608620;178608619 | chr2:179473348;179473347;179473346 |
| 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 | None | None | 1.0 | N | 0.818 | 0.377 | 0.417081434665 | gnomAD-4.0.0 | 1.59904E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.79955E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs2055509243  |
None | 1.0 | N | 0.795 | 0.257 | 0.355450299083 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs2055509243 |
None | 1.0 | N | 0.795 | 0.257 | 0.355450299083 | gnomAD-4.0.0 | 3.85911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.80079E-06 | 1.3527E-05 | 0 |
| A/V | None | None | 0.999 | N | 0.701 | 0.256 | 0.352910780287 | gnomAD-4.0.0 | 1.37143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80099E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6136 | likely_pathogenic | 0.5522 | ambiguous | -1.552 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | 0.992 | pathogenic | -2.578 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.499561897 | None | None | N |
| A/E | 0.9864 | likely_pathogenic | 0.9804 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/F | 0.9069 | likely_pathogenic | 0.8589 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| A/G | 0.5705 | likely_pathogenic | 0.4945 | ambiguous | -1.759 | Destabilizing | 0.999 | D | 0.604 | neutral | N | 0.482672183 | None | None | N |
| A/H | 0.9929 | likely_pathogenic | 0.9891 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/I | 0.6106 | likely_pathogenic | 0.5318 | ambiguous | -0.197 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/K | 0.9963 | likely_pathogenic | 0.9937 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/L | 0.5137 | ambiguous | 0.4437 | ambiguous | -0.197 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/M | 0.595 | likely_pathogenic | 0.5168 | ambiguous | -0.561 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/N | 0.9762 | likely_pathogenic | 0.9662 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/P | 0.766 | likely_pathogenic | 0.6377 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.818 | deleterious | N | 0.478886748 | None | None | N |
| A/Q | 0.9696 | likely_pathogenic | 0.9588 | pathogenic | -1.546 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/R | 0.9866 | likely_pathogenic | 0.9802 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/S | 0.414 | ambiguous | 0.3672 | ambiguous | -2.062 | Highly Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.489647169 | None | None | N |
| A/T | 0.5685 | likely_pathogenic | 0.4712 | ambiguous | -1.783 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.521825751 | None | None | N |
| A/V | 0.3522 | ambiguous | 0.2983 | benign | -0.533 | Destabilizing | 0.999 | D | 0.701 | prob.delet. | N | 0.506834869 | None | None | N |
| A/W | 0.9949 | likely_pathogenic | 0.9911 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/Y | 0.9833 | likely_pathogenic | 0.9735 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.847 | 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.