Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22457 | 67594;67595;67596 | chr2:178579828;178579827;178579826 | chr2:179444555;179444554;179444553 |
| N2AB | 20816 | 62671;62672;62673 | chr2:178579828;178579827;178579826 | chr2:179444555;179444554;179444553 |
| N2A | 19889 | 59890;59891;59892 | chr2:178579828;178579827;178579826 | chr2:179444555;179444554;179444553 |
| N2B | 13392 | 40399;40400;40401 | chr2:178579828;178579827;178579826 | chr2:179444555;179444554;179444553 |
| Novex-1 | 13517 | 40774;40775;40776 | chr2:178579828;178579827;178579826 | chr2:179444555;179444554;179444553 |
| Novex-2 | 13584 | 40975;40976;40977 | chr2:178579828;178579827;178579826 | chr2:179444555;179444554;179444553 |
| 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/A | rs1023600080  |
None | 0.992 | N | 0.668 | 0.49 | 0.363356657567 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| D/A | rs1023600080 |
None | 0.992 | N | 0.668 | 0.49 | 0.363356657567 | gnomAD-4.0.0 | 7.43906E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01739E-05 | 0 | 0 |
| D/H | rs774749791 |
0.179 | 1.0 | N | 0.739 | 0.41 | 0.327686398923 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| D/H | rs774749791 |
0.179 | 1.0 | N | 0.739 | 0.41 | 0.327686398923 | gnomAD-4.0.0 | 4.10666E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49843E-06 | 1.15974E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4136 | ambiguous | 0.3371 | benign | -0.387 | Destabilizing | 0.992 | D | 0.668 | neutral | N | 0.503954853 | None | None | N |
| D/C | 0.8742 | likely_pathogenic | 0.8353 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| D/E | 0.3466 | ambiguous | 0.2821 | benign | -0.426 | Destabilizing | 0.619 | D | 0.219 | neutral | N | 0.492199065 | None | None | N |
| D/F | 0.8604 | likely_pathogenic | 0.8291 | pathogenic | -0.118 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| D/G | 0.3305 | likely_benign | 0.299 | benign | -0.628 | Destabilizing | 0.996 | D | 0.701 | prob.neutral | N | 0.497623527 | None | None | N |
| D/H | 0.651 | likely_pathogenic | 0.573 | pathogenic | 0.019 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.480638403 | None | None | N |
| D/I | 0.8311 | likely_pathogenic | 0.7551 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| D/K | 0.8173 | likely_pathogenic | 0.7493 | pathogenic | 0.036 | Stabilizing | 0.998 | D | 0.722 | prob.delet. | None | None | None | None | N |
| D/L | 0.7594 | likely_pathogenic | 0.6866 | pathogenic | 0.217 | Stabilizing | 0.999 | D | 0.772 | deleterious | None | None | None | None | N |
| D/M | 0.9004 | likely_pathogenic | 0.8481 | pathogenic | 0.291 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/N | 0.2083 | likely_benign | 0.1778 | benign | -0.38 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | N | 0.482323214 | None | None | N |
| D/P | 0.9534 | likely_pathogenic | 0.9383 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/Q | 0.7074 | likely_pathogenic | 0.6187 | pathogenic | -0.314 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| D/R | 0.8128 | likely_pathogenic | 0.7506 | pathogenic | 0.312 | Stabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | N |
| D/S | 0.3112 | likely_benign | 0.2564 | benign | -0.499 | Destabilizing | 0.994 | D | 0.67 | neutral | None | None | None | None | N |
| D/T | 0.6486 | likely_pathogenic | 0.5536 | ambiguous | -0.308 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | None | None | None | None | N |
| D/V | 0.6574 | likely_pathogenic | 0.5701 | pathogenic | 0.039 | Stabilizing | 0.999 | D | 0.772 | deleterious | N | 0.47842313 | None | None | N |
| D/W | 0.969 | likely_pathogenic | 0.9573 | pathogenic | 0.065 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Y | 0.5166 | ambiguous | 0.4731 | ambiguous | 0.121 | Stabilizing | 1.0 | D | 0.771 | deleterious | N | 0.510352453 | 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.