Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7356 | 22291;22292;22293 | chr2:178722833;178722832;178722831 | chr2:179587560;179587559;179587558 |
| N2AB | 7039 | 21340;21341;21342 | chr2:178722833;178722832;178722831 | chr2:179587560;179587559;179587558 |
| N2A | 6112 | 18559;18560;18561 | chr2:178722833;178722832;178722831 | chr2:179587560;179587559;179587558 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs908134644  |
None | 1.0 | D | 0.828 | 0.763 | 0.921398576477 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| W/C | rs908134644 |
None | 1.0 | D | 0.828 | 0.763 | 0.921398576477 | gnomAD-4.0.0 | 6.41037E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19724E-05 | 0 | 0 |
| W/L | None | None | 0.999 | D | 0.811 | 0.771 | 0.960035691554 | gnomAD-4.0.0 | 1.59246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86007E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9919 | likely_pathogenic | 0.9976 | pathogenic | -3.018 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/C | 0.9932 | likely_pathogenic | 0.9982 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.708637404 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -2.953 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9998 | pathogenic | -2.832 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/F | 0.5966 | likely_pathogenic | 0.6765 | pathogenic | -1.746 | Destabilizing | 0.796 | D | 0.549 | neutral | None | None | None | None | N |
| W/G | 0.9774 | likely_pathogenic | 0.9922 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.708435599 | None | None | N |
| W/H | 0.9956 | likely_pathogenic | 0.9981 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/I | 0.963 | likely_pathogenic | 0.9862 | pathogenic | -2.088 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9999 | pathogenic | -2.196 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/L | 0.9182 | likely_pathogenic | 0.9663 | pathogenic | -2.088 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | D | 0.692416238 | None | None | N |
| W/M | 0.985 | likely_pathogenic | 0.9946 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| W/N | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -2.837 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| W/P | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | -2.426 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/Q | 0.9992 | likely_pathogenic | 0.9998 | pathogenic | -2.686 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/R | 0.9983 | likely_pathogenic | 0.9995 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.708637404 | None | None | N |
| W/S | 0.989 | likely_pathogenic | 0.9968 | pathogenic | -3.088 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.708637404 | None | None | N |
| W/T | 0.9922 | likely_pathogenic | 0.9978 | pathogenic | -2.899 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/V | 0.9647 | likely_pathogenic | 0.9874 | pathogenic | -2.426 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/Y | 0.9144 | likely_pathogenic | 0.9511 | pathogenic | -1.554 | Destabilizing | 0.996 | D | 0.763 | 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.