Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17924 | 53995;53996;53997 | chr2:178605525;178605524;178605523 | chr2:179470252;179470251;179470250 |
| N2AB | 16283 | 49072;49073;49074 | chr2:178605525;178605524;178605523 | chr2:179470252;179470251;179470250 |
| N2A | 15356 | 46291;46292;46293 | chr2:178605525;178605524;178605523 | chr2:179470252;179470251;179470250 |
| N2B | 8859 | 26800;26801;26802 | chr2:178605525;178605524;178605523 | chr2:179470252;179470251;179470250 |
| Novex-1 | 8984 | 27175;27176;27177 | chr2:178605525;178605524;178605523 | chr2:179470252;179470251;179470250 |
| Novex-2 | 9051 | 27376;27377;27378 | chr2:178605525;178605524;178605523 | chr2:179470252;179470251;179470250 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs879168076  |
None | 0.999 | N | 0.647 | 0.51 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 1.31216E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs879168076 |
None | 0.999 | N | 0.647 | 0.51 | None | gnomAD-4.0.0 | 4.96182E-06 | None | None | None | None | N | None | 1.33679E-05 | 3.33756E-05 | None | 0 | 0 | None | 0 | 0 | 4.2412E-06 | 0 | 0 |
| V/I | rs886916206 |
0.288 | 0.997 | N | 0.556 | 0.227 | 0.537125817887 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs886916206 |
0.288 | 0.997 | N | 0.556 | 0.227 | 0.537125817887 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs886916206 |
0.288 | 0.997 | N | 0.556 | 0.227 | 0.537125817887 | gnomAD-4.0.0 | 6.82319E-06 | None | None | None | None | N | None | 0 | 3.33856E-05 | None | 0 | 0 | None | 0 | 0 | 6.78615E-06 | 0 | 1.60298E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3303 | likely_benign | 0.4263 | ambiguous | -1.723 | Destabilizing | 0.999 | D | 0.647 | neutral | N | 0.519660599 | None | None | N |
| V/C | 0.8505 | likely_pathogenic | 0.8855 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| V/D | 0.9712 | likely_pathogenic | 0.9865 | pathogenic | -2.613 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.481784627 | None | None | N |
| V/E | 0.9048 | likely_pathogenic | 0.9503 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/F | 0.5993 | likely_pathogenic | 0.7288 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.485326118 | None | None | N |
| V/G | 0.7801 | likely_pathogenic | 0.8772 | pathogenic | -2.322 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.518589022 | None | None | N |
| V/H | 0.9662 | likely_pathogenic | 0.9837 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/I | 0.1019 | likely_benign | 0.1044 | benign | -0.004 | Destabilizing | 0.997 | D | 0.556 | neutral | N | 0.472287939 | None | None | N |
| V/K | 0.9536 | likely_pathogenic | 0.9779 | pathogenic | -1.447 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/L | 0.3231 | likely_benign | 0.441 | ambiguous | -0.004 | Destabilizing | 0.997 | D | 0.657 | neutral | N | 0.463972313 | None | None | N |
| V/M | 0.3974 | ambiguous | 0.5107 | ambiguous | -0.198 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| V/N | 0.9504 | likely_pathogenic | 0.9743 | pathogenic | -2.091 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| V/P | 0.9523 | likely_pathogenic | 0.9696 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| V/Q | 0.9076 | likely_pathogenic | 0.9527 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/R | 0.9294 | likely_pathogenic | 0.9648 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/S | 0.7752 | likely_pathogenic | 0.8606 | pathogenic | -2.63 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/T | 0.494 | ambiguous | 0.5763 | pathogenic | -2.144 | Highly Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| V/W | 0.9804 | likely_pathogenic | 0.9915 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/Y | 0.9402 | likely_pathogenic | 0.9664 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.802 | 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.