Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22777 | 68554;68555;68556 | chr2:178578611;178578185;178578184 | chr2:179443338;179442912;179442911 |
| N2AB | 21136 | 63631;63632;63633 | chr2:178578611;178578185;178578184 | chr2:179443338;179442912;179442911 |
| N2A | 20209 | 60850;60851;60852 | chr2:178578611;178578185;178578184 | chr2:179443338;179442912;179442911 |
| N2B | 13712 | 41359;41360;41361 | chr2:178578611;178578185;178578184 | chr2:179443338;179442912;179442911 |
| Novex-1 | 13837 | 41734;41735;41736 | chr2:178578611;178578185;178578184 | chr2:179443338;179442912;179442911 |
| Novex-2 | 13904 | 41935;41936;41937 | chr2:178578611;178578185;178578184 | chr2:179443338;179442912;179442911 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.603 | None | 0.46017455471 | gnomAD-4.0.0 | 1.60065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03361E-05 |
| G/E | rs1291616891  |
-2.104 | 1.0 | N | 0.892 | None | 0.599751284718 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1291616891 |
-2.104 | 1.0 | N | 0.892 | None | 0.599751284718 | gnomAD-4.0.0 | 3.2013E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78087E-05 | None | 0 | 0 | 2.86372E-06 | 0 | 0 |
| G/R | rs2154174748 |
None | 1.0 | N | 0.882 | 0.567 | 0.561867705733 | gnomAD-4.0.0 | 1.3749E-06 | None | None | None | None | N | None | 3.00192E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66417E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5369 | ambiguous | 0.5784 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.603 | neutral | N | 0.499760297 | None | None | N |
| G/C | 0.8286 | likely_pathogenic | 0.8636 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/D | 0.9767 | likely_pathogenic | 0.9833 | pathogenic | -1.876 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/E | 0.9857 | likely_pathogenic | 0.9878 | pathogenic | -1.792 | Destabilizing | 1.0 | D | 0.892 | deleterious | N | 0.492011616 | None | None | N |
| G/F | 0.9896 | likely_pathogenic | 0.9906 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.978 | likely_pathogenic | 0.9839 | pathogenic | -1.724 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9894 | likely_pathogenic | 0.9919 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.9953 | likely_pathogenic | 0.9961 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.9835 | likely_pathogenic | 0.9869 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9854 | likely_pathogenic | 0.987 | pathogenic | 0.006 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/N | 0.9401 | likely_pathogenic | 0.9594 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/Q | 0.9735 | likely_pathogenic | 0.9776 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/R | 0.977 | likely_pathogenic | 0.982 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.882 | deleterious | N | 0.490352548 | None | None | N |
| G/S | 0.4744 | ambiguous | 0.5489 | ambiguous | -1.436 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| G/T | 0.9256 | likely_pathogenic | 0.9446 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/V | 0.9739 | likely_pathogenic | 0.9808 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.553263368 | None | None | N |
| G/W | 0.9804 | likely_pathogenic | 0.9847 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.554277326 | None | None | N |
| G/Y | 0.9734 | likely_pathogenic | 0.9781 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.848 | 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.