Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25178 | 75757;75758;75759 | chr2:178570600;178570599;178570598 | chr2:179435327;179435326;179435325 |
| N2AB | 23537 | 70834;70835;70836 | chr2:178570600;178570599;178570598 | chr2:179435327;179435326;179435325 |
| N2A | 22610 | 68053;68054;68055 | chr2:178570600;178570599;178570598 | chr2:179435327;179435326;179435325 |
| N2B | 16113 | 48562;48563;48564 | chr2:178570600;178570599;178570598 | chr2:179435327;179435326;179435325 |
| Novex-1 | 16238 | 48937;48938;48939 | chr2:178570600;178570599;178570598 | chr2:179435327;179435326;179435325 |
| Novex-2 | 16305 | 49138;49139;49140 | chr2:178570600;178570599;178570598 | chr2:179435327;179435326;179435325 |
| 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/H | rs878863074  |
None | 1.0 | D | 0.838 | 0.696 | 0.596874347621 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs878863074 |
None | 1.0 | D | 0.838 | 0.696 | 0.596874347621 | gnomAD-4.0.0 | 6.57678E-06 | None | None | None | None | N | None | 2.41394E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs878863074 |
-0.4 | 1.0 | D | 0.811 | 0.66 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.13E-05 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40766E-04 |
| D/N | rs878863074 |
-0.4 | 1.0 | D | 0.811 | 0.66 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 6.56E-05 | 0 | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs878863074 |
-0.4 | 1.0 | D | 0.811 | 0.66 | None | gnomAD-4.0.0 | 1.36367E-05 | None | None | None | None | N | None | 5.34202E-05 | 5.00417E-05 | None | 0 | 6.70151E-05 | None | 0 | 0 | 8.47725E-06 | 0 | 3.20307E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9599 | likely_pathogenic | 0.9717 | pathogenic | 0.654 | Stabilizing | 1.0 | D | 0.847 | deleterious | D | 0.655248558 | None | None | N |
| D/C | 0.9728 | likely_pathogenic | 0.9847 | pathogenic | 0.59 | Stabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/E | 0.8989 | likely_pathogenic | 0.9193 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.616659223 | None | None | N |
| D/F | 0.9856 | likely_pathogenic | 0.9913 | pathogenic | 1.353 | Stabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| D/G | 0.9599 | likely_pathogenic | 0.9738 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.785 | deleterious | D | 0.655450362 | None | None | N |
| D/H | 0.8756 | likely_pathogenic | 0.9215 | pathogenic | 1.075 | Stabilizing | 1.0 | D | 0.838 | deleterious | D | 0.573698044 | None | None | N |
| D/I | 0.9859 | likely_pathogenic | 0.9909 | pathogenic | 1.901 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/K | 0.991 | likely_pathogenic | 0.9944 | pathogenic | 0.69 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/L | 0.9826 | likely_pathogenic | 0.9873 | pathogenic | 1.901 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/M | 0.9927 | likely_pathogenic | 0.9953 | pathogenic | 2.179 | Highly Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/N | 0.7541 | likely_pathogenic | 0.8012 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.605343876 | None | None | N |
| D/P | 0.9973 | likely_pathogenic | 0.9983 | pathogenic | 1.517 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/Q | 0.9757 | likely_pathogenic | 0.9843 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/R | 0.991 | likely_pathogenic | 0.9944 | pathogenic | 0.654 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/S | 0.8852 | likely_pathogenic | 0.9179 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/T | 0.9759 | likely_pathogenic | 0.9827 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| D/V | 0.9682 | likely_pathogenic | 0.9783 | pathogenic | 1.517 | Stabilizing | 1.0 | D | 0.859 | deleterious | D | 0.655853971 | None | None | N |
| D/W | 0.9965 | likely_pathogenic | 0.998 | pathogenic | 1.41 | Stabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| D/Y | 0.9252 | likely_pathogenic | 0.9508 | pathogenic | 1.665 | Stabilizing | 1.0 | D | 0.867 | deleterious | D | 0.655652166 | 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.