Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33020 | 99283;99284;99285 | chr2:178538771;178538770;178538769 | chr2:179403498;179403497;179403496 |
| N2AB | 31379 | 94360;94361;94362 | chr2:178538771;178538770;178538769 | chr2:179403498;179403497;179403496 |
| N2A | 30452 | 91579;91580;91581 | chr2:178538771;178538770;178538769 | chr2:179403498;179403497;179403496 |
| N2B | 23955 | 72088;72089;72090 | chr2:178538771;178538770;178538769 | chr2:179403498;179403497;179403496 |
| Novex-1 | 24080 | 72463;72464;72465 | chr2:178538771;178538770;178538769 | chr2:179403498;179403497;179403496 |
| Novex-2 | 24147 | 72664;72665;72666 | chr2:178538771;178538770;178538769 | chr2:179403498;179403497;179403496 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs907499799  |
None | 0.993 | N | 0.657 | 0.331 | 0.376570364461 | gnomAD-4.0.0 | 4.10551E-06 | None | None | None | None | N | None | 1.49441E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65645E-05 |
| E/K | rs751222141 |
-0.158 | 0.993 | N | 0.587 | 0.341 | 0.27855597813 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| E/K | rs751222141 |
-0.158 | 0.993 | N | 0.587 | 0.341 | 0.27855597813 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/K | rs751222141 |
-0.158 | 0.993 | N | 0.587 | 0.341 | 0.27855597813 | gnomAD-4.0.0 | 2.60288E-05 | None | None | None | None | N | None | 1.33515E-05 | 0 | None | 0 | 0 | None | 1.5627E-05 | 0 | 3.30586E-05 | 0 | 1.60108E-05 |
| E/Q | None | None | 0.993 | N | 0.609 | 0.278 | 0.259761712551 | gnomAD-4.0.0 | 6.84262E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9953E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2079 | likely_benign | 0.2171 | benign | -0.655 | Destabilizing | 0.954 | D | 0.642 | neutral | N | 0.471229146 | None | None | N |
| E/C | 0.851 | likely_pathogenic | 0.8549 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| E/D | 0.1425 | likely_benign | 0.1464 | benign | -1.001 | Destabilizing | 0.993 | D | 0.552 | neutral | N | 0.439924805 | None | None | N |
| E/F | 0.8362 | likely_pathogenic | 0.8475 | pathogenic | -0.101 | Destabilizing | 0.991 | D | 0.744 | deleterious | None | None | None | None | N |
| E/G | 0.1537 | likely_benign | 0.1566 | benign | -0.998 | Destabilizing | 0.993 | D | 0.657 | neutral | N | 0.492393852 | None | None | N |
| E/H | 0.5559 | ambiguous | 0.5773 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| E/I | 0.4844 | ambiguous | 0.4904 | ambiguous | 0.273 | Stabilizing | 0.942 | D | 0.653 | neutral | None | None | None | None | N |
| E/K | 0.1996 | likely_benign | 0.2033 | benign | -0.634 | Destabilizing | 0.993 | D | 0.587 | neutral | N | 0.449120291 | None | None | N |
| E/L | 0.4213 | ambiguous | 0.4339 | ambiguous | 0.273 | Stabilizing | 0.041 | N | 0.419 | neutral | None | None | None | None | N |
| E/M | 0.524 | ambiguous | 0.5431 | ambiguous | 0.524 | Stabilizing | 0.991 | D | 0.745 | deleterious | None | None | None | None | N |
| E/N | 0.2498 | likely_benign | 0.2571 | benign | -1.049 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| E/P | 0.8103 | likely_pathogenic | 0.8047 | pathogenic | -0.014 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| E/Q | 0.1478 | likely_benign | 0.1562 | benign | -0.896 | Destabilizing | 0.993 | D | 0.609 | neutral | N | 0.45743313 | None | None | N |
| E/R | 0.3137 | likely_benign | 0.3233 | benign | -0.298 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| E/S | 0.22 | likely_benign | 0.2275 | benign | -1.306 | Destabilizing | 0.995 | D | 0.567 | neutral | None | None | None | None | N |
| E/T | 0.2772 | likely_benign | 0.2776 | benign | -1.027 | Destabilizing | 0.985 | D | 0.668 | neutral | None | None | None | None | N |
| E/V | 0.2897 | likely_benign | 0.2961 | benign | -0.014 | Destabilizing | 0.925 | D | 0.629 | neutral | N | 0.503264207 | None | None | N |
| E/W | 0.9206 | likely_pathogenic | 0.9264 | pathogenic | 0.103 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/Y | 0.7162 | likely_pathogenic | 0.7349 | pathogenic | 0.116 | Stabilizing | 0.999 | D | 0.741 | 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.