Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17343 | 52252;52253;52254 | chr2:178609283;178609282;178609281 | chr2:179474010;179474009;179474008 |
| N2AB | 15702 | 47329;47330;47331 | chr2:178609283;178609282;178609281 | chr2:179474010;179474009;179474008 |
| N2A | 14775 | 44548;44549;44550 | chr2:178609283;178609282;178609281 | chr2:179474010;179474009;179474008 |
| N2B | 8278 | 25057;25058;25059 | chr2:178609283;178609282;178609281 | chr2:179474010;179474009;179474008 |
| Novex-1 | 8403 | 25432;25433;25434 | chr2:178609283;178609282;178609281 | chr2:179474010;179474009;179474008 |
| Novex-2 | 8470 | 25633;25634;25635 | chr2:178609283;178609282;178609281 | chr2:179474010;179474009;179474008 |
| 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/V | rs201796622  |
0.703 | 0.973 | D | 0.917 | 0.857 | 0.887541276338 | gnomAD-2.1.1 | 4.44E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.68E-06 | 0 |
| D/V | rs201796622 |
0.703 | 0.973 | D | 0.917 | 0.857 | 0.887541276338 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/V | rs201796622 |
0.703 | 0.973 | D | 0.917 | 0.857 | 0.887541276338 | gnomAD-4.0.0 | 2.52137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.42683E-06 | 0 | 0 |
| D/Y | rs2055729807 |
None | 0.998 | D | 0.938 | 0.804 | 0.85440441475 | gnomAD-4.0.0 | 1.662E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.56216E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9908 | likely_pathogenic | 0.9898 | pathogenic | 1.021 | Stabilizing | 0.946 | D | 0.876 | deleterious | D | 0.617637884 | None | None | N |
| D/C | 0.9939 | likely_pathogenic | 0.9927 | pathogenic | 0.749 | Stabilizing | 0.998 | D | 0.895 | deleterious | None | None | None | None | N |
| D/E | 0.9589 | likely_pathogenic | 0.9581 | pathogenic | -0.559 | Destabilizing | 0.834 | D | 0.619 | neutral | D | 0.616427059 | None | None | N |
| D/F | 0.998 | likely_pathogenic | 0.9978 | pathogenic | 1.495 | Stabilizing | 0.998 | D | 0.937 | deleterious | None | None | None | None | N |
| D/G | 0.9906 | likely_pathogenic | 0.9898 | pathogenic | 0.53 | Stabilizing | 0.716 | D | 0.755 | deleterious | D | 0.617839688 | None | None | N |
| D/H | 0.9829 | likely_pathogenic | 0.9775 | pathogenic | 1.035 | Stabilizing | 0.985 | D | 0.876 | deleterious | D | 0.555124872 | None | None | N |
| D/I | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | 2.338 | Highly Stabilizing | 0.979 | D | 0.931 | deleterious | None | None | None | None | N |
| D/K | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | 0.306 | Stabilizing | 0.921 | D | 0.842 | deleterious | None | None | None | None | N |
| D/L | 0.995 | likely_pathogenic | 0.9948 | pathogenic | 2.338 | Highly Stabilizing | 0.959 | D | 0.917 | deleterious | None | None | None | None | N |
| D/M | 0.9991 | likely_pathogenic | 0.999 | pathogenic | 2.689 | Highly Stabilizing | 0.998 | D | 0.902 | deleterious | None | None | None | None | N |
| D/N | 0.9505 | likely_pathogenic | 0.9416 | pathogenic | -0.462 | Destabilizing | 0.035 | N | 0.347 | neutral | D | 0.590485338 | None | None | N |
| D/P | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | 1.931 | Stabilizing | 0.979 | D | 0.874 | deleterious | None | None | None | None | N |
| D/Q | 0.9951 | likely_pathogenic | 0.9945 | pathogenic | -0.023 | Destabilizing | 0.959 | D | 0.827 | deleterious | None | None | None | None | N |
| D/R | 0.9964 | likely_pathogenic | 0.9959 | pathogenic | 0.115 | Stabilizing | 0.959 | D | 0.913 | deleterious | None | None | None | None | N |
| D/S | 0.9745 | likely_pathogenic | 0.9698 | pathogenic | -0.754 | Destabilizing | 0.769 | D | 0.658 | neutral | None | None | None | None | N |
| D/T | 0.9951 | likely_pathogenic | 0.9945 | pathogenic | -0.3 | Destabilizing | 0.921 | D | 0.841 | deleterious | None | None | None | None | N |
| D/V | 0.9935 | likely_pathogenic | 0.993 | pathogenic | 1.931 | Stabilizing | 0.973 | D | 0.917 | deleterious | D | 0.618243297 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 1.226 | Stabilizing | 0.998 | D | 0.881 | deleterious | None | None | None | None | N |
| D/Y | 0.9882 | likely_pathogenic | 0.9867 | pathogenic | 1.695 | Stabilizing | 0.998 | D | 0.938 | deleterious | D | 0.618041493 | 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.