Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31415 | 94468;94469;94470 | chr2:178547282;178547281;178547280 | chr2:179412009;179412008;179412007 |
| N2AB | 29774 | 89545;89546;89547 | chr2:178547282;178547281;178547280 | chr2:179412009;179412008;179412007 |
| N2A | 28847 | 86764;86765;86766 | chr2:178547282;178547281;178547280 | chr2:179412009;179412008;179412007 |
| N2B | 22350 | 67273;67274;67275 | chr2:178547282;178547281;178547280 | chr2:179412009;179412008;179412007 |
| Novex-1 | 22475 | 67648;67649;67650 | chr2:178547282;178547281;178547280 | chr2:179412009;179412008;179412007 |
| Novex-2 | 22542 | 67849;67850;67851 | chr2:178547282;178547281;178547280 | chr2:179412009;179412008;179412007 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs756168192  |
-0.816 | 1.0 | N | 0.885 | 0.406 | 0.503868428259 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/L | rs756168192 |
-0.816 | 1.0 | N | 0.885 | 0.406 | 0.503868428259 | gnomAD-4.0.0 | 1.59585E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86847E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7794 | likely_pathogenic | 0.7889 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.491536955 | None | None | N |
| P/C | 0.9643 | likely_pathogenic | 0.9642 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.05 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/G | 0.9868 | likely_pathogenic | 0.9881 | pathogenic | -2.598 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/H | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.533532363 | None | None | N |
| P/I | 0.9291 | likely_pathogenic | 0.9262 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/K | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.7598 | likely_pathogenic | 0.7502 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.460705317 | None | None | N |
| P/M | 0.9649 | likely_pathogenic | 0.9638 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/N | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/Q | 0.9958 | likely_pathogenic | 0.996 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/R | 0.9974 | likely_pathogenic | 0.9978 | pathogenic | -1.449 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.533532363 | None | None | N |
| P/S | 0.9863 | likely_pathogenic | 0.987 | pathogenic | -2.493 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.521757984 | None | None | N |
| P/T | 0.9501 | likely_pathogenic | 0.9539 | pathogenic | -2.154 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.533025384 | None | None | N |
| P/V | 0.8119 | likely_pathogenic | 0.805 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.897 | 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.