Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26150 | 78673;78674;78675 | chr2:178567684;178567683;178567682 | chr2:179432411;179432410;179432409 |
| N2AB | 24509 | 73750;73751;73752 | chr2:178567684;178567683;178567682 | chr2:179432411;179432410;179432409 |
| N2A | 23582 | 70969;70970;70971 | chr2:178567684;178567683;178567682 | chr2:179432411;179432410;179432409 |
| N2B | 17085 | 51478;51479;51480 | chr2:178567684;178567683;178567682 | chr2:179432411;179432410;179432409 |
| Novex-1 | 17210 | 51853;51854;51855 | chr2:178567684;178567683;178567682 | chr2:179432411;179432410;179432409 |
| Novex-2 | 17277 | 52054;52055;52056 | chr2:178567684;178567683;178567682 | chr2:179432411;179432410;179432409 |
| 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 | rs748589083  |
-1.914 | 0.999 | N | 0.641 | 0.469 | 0.658641747128 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.84E-05 | None | 0 | 0 | 0 |
| V/A | rs748589083 |
-1.914 | 0.999 | N | 0.641 | 0.469 | 0.658641747128 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| V/A | rs748589083 |
-1.914 | 0.999 | N | 0.641 | 0.469 | 0.658641747128 | gnomAD-4.0.0 | 3.10143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48326E-07 | 3.29721E-05 | 1.60287E-05 |
| V/M | None | None | 1.0 | N | 0.726 | 0.409 | 0.602559457607 | gnomAD-4.0.0 | 1.59534E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43521E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6449 | likely_pathogenic | 0.4685 | ambiguous | -1.533 | Destabilizing | 0.999 | D | 0.641 | neutral | N | 0.474378341 | None | None | N |
| V/C | 0.9348 | likely_pathogenic | 0.9006 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/D | 0.9956 | likely_pathogenic | 0.9914 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/E | 0.9864 | likely_pathogenic | 0.977 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.544099563 | None | None | N |
| V/F | 0.82 | likely_pathogenic | 0.7665 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| V/G | 0.9383 | likely_pathogenic | 0.885 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.555620452 | None | None | N |
| V/H | 0.9952 | likely_pathogenic | 0.9917 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/I | 0.0989 | likely_benign | 0.0931 | benign | 0.111 | Stabilizing | 0.998 | D | 0.531 | neutral | None | None | None | None | N |
| V/K | 0.9926 | likely_pathogenic | 0.9878 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/L | 0.6264 | likely_pathogenic | 0.5721 | pathogenic | 0.111 | Stabilizing | 0.997 | D | 0.649 | neutral | N | 0.472632551 | None | None | N |
| V/M | 0.6424 | likely_pathogenic | 0.5475 | ambiguous | -0.149 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.520879973 | None | None | N |
| V/N | 0.9821 | likely_pathogenic | 0.9627 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/P | 0.9893 | likely_pathogenic | 0.9845 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/Q | 0.9851 | likely_pathogenic | 0.9746 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/R | 0.9864 | likely_pathogenic | 0.9797 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| V/S | 0.9184 | likely_pathogenic | 0.8263 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/T | 0.8221 | likely_pathogenic | 0.6482 | pathogenic | -1.775 | Destabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | N |
| V/W | 0.9982 | likely_pathogenic | 0.9972 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Y | 0.9849 | likely_pathogenic | 0.9777 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.77 | 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.