Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32281 | 97066;97067;97068 | chr2:178543132;178543131;178543130 | chr2:179407859;179407858;179407857 |
| N2AB | 30640 | 92143;92144;92145 | chr2:178543132;178543131;178543130 | chr2:179407859;179407858;179407857 |
| N2A | 29713 | 89362;89363;89364 | chr2:178543132;178543131;178543130 | chr2:179407859;179407858;179407857 |
| N2B | 23216 | 69871;69872;69873 | chr2:178543132;178543131;178543130 | chr2:179407859;179407858;179407857 |
| Novex-1 | 23341 | 70246;70247;70248 | chr2:178543132;178543131;178543130 | chr2:179407859;179407858;179407857 |
| Novex-2 | 23408 | 70447;70448;70449 | chr2:178543132;178543131;178543130 | chr2:179407859;179407858;179407857 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.999 | N | 0.631 | 0.626 | 0.403328974453 | gnomAD-4.0.0 | 1.59558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86974E-06 | 0 | 0 |
| N/I | None | None | 1.0 | D | 0.807 | 0.621 | 0.771151953625 | gnomAD-4.0.0 | 2.74021E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60271E-06 | 0 | 0 |
| N/S | rs1304722341  |
-1.034 | 1.0 | N | 0.609 | 0.54 | 0.336400405673 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/S | rs1304722341 |
-1.034 | 1.0 | N | 0.609 | 0.54 | 0.336400405673 | gnomAD-4.0.0 | 6.85052E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1599E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9934 | likely_pathogenic | 0.9946 | pathogenic | 0.05 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| N/C | 0.9612 | likely_pathogenic | 0.9656 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| N/D | 0.9764 | likely_pathogenic | 0.9818 | pathogenic | -2.367 | Highly Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.511686033 | None | None | N |
| N/E | 0.9962 | likely_pathogenic | 0.997 | pathogenic | -2.216 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| N/F | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| N/G | 0.9775 | likely_pathogenic | 0.9815 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.588 | neutral | None | None | None | None | N |
| N/H | 0.9677 | likely_pathogenic | 0.9773 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.548743917 | None | None | N |
| N/I | 0.9914 | likely_pathogenic | 0.9932 | pathogenic | 0.61 | Stabilizing | 1.0 | D | 0.807 | deleterious | D | 0.531311226 | None | None | N |
| N/K | 0.995 | likely_pathogenic | 0.9967 | pathogenic | 0.227 | Stabilizing | 1.0 | D | 0.763 | deleterious | N | 0.516054126 | None | None | N |
| N/L | 0.976 | likely_pathogenic | 0.9791 | pathogenic | 0.61 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| N/M | 0.9874 | likely_pathogenic | 0.9898 | pathogenic | 0.552 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| N/P | 0.9969 | likely_pathogenic | 0.998 | pathogenic | 0.451 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/Q | 0.9959 | likely_pathogenic | 0.9971 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| N/R | 0.9925 | likely_pathogenic | 0.9948 | pathogenic | 0.217 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| N/S | 0.8483 | likely_pathogenic | 0.8651 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.503061525 | None | None | N |
| N/T | 0.9397 | likely_pathogenic | 0.9454 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.487649387 | None | None | N |
| N/V | 0.9876 | likely_pathogenic | 0.9898 | pathogenic | 0.451 | Stabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| N/W | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/Y | 0.9841 | likely_pathogenic | 0.9894 | pathogenic | 0.149 | Stabilizing | 1.0 | D | 0.815 | deleterious | D | 0.537641102 | 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.