Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30830 | 92713;92714;92715 | chr2:178549138;178549137;178549136 | chr2:179413865;179413864;179413863 |
| N2AB | 29189 | 87790;87791;87792 | chr2:178549138;178549137;178549136 | chr2:179413865;179413864;179413863 |
| N2A | 28262 | 85009;85010;85011 | chr2:178549138;178549137;178549136 | chr2:179413865;179413864;179413863 |
| N2B | 21765 | 65518;65519;65520 | chr2:178549138;178549137;178549136 | chr2:179413865;179413864;179413863 |
| Novex-1 | 21890 | 65893;65894;65895 | chr2:178549138;178549137;178549136 | chr2:179413865;179413864;179413863 |
| Novex-2 | 21957 | 66094;66095;66096 | chr2:178549138;178549137;178549136 | chr2:179413865;179413864;179413863 |
| 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/I | rs376287060  |
-0.564 | 0.992 | N | 0.391 | 0.246 | None | gnomAD-2.1.1 | 3.92E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 6.24E-05 | 2.80584E-04 |
| V/I | rs376287060 |
-0.564 | 0.992 | N | 0.391 | 0.246 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs376287060 |
-0.564 | 0.992 | N | 0.391 | 0.246 | None | gnomAD-4.0.0 | 2.35485E-05 | None | None | None | None | N | None | 0 | 1.66756E-05 | None | 0 | 0 | None | 0 | 3.28947E-04 | 2.62748E-05 | 0 | 6.40451E-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 | 0.3705 | ambiguous | 0.3429 | ambiguous | -1.277 | Destabilizing | 0.992 | D | 0.564 | neutral | N | 0.515075924 | None | None | N |
| V/C | 0.8628 | likely_pathogenic | 0.8653 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| V/D | 0.9253 | likely_pathogenic | 0.9242 | pathogenic | -0.58 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| V/E | 0.8432 | likely_pathogenic | 0.8351 | pathogenic | -0.567 | Destabilizing | 0.999 | D | 0.83 | deleterious | D | 0.527614696 | None | None | N |
| V/F | 0.6247 | likely_pathogenic | 0.6209 | pathogenic | -0.936 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| V/G | 0.6304 | likely_pathogenic | 0.6269 | pathogenic | -1.597 | Destabilizing | 0.999 | D | 0.81 | deleterious | D | 0.526600738 | None | None | N |
| V/H | 0.9627 | likely_pathogenic | 0.9597 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/I | 0.0908 | likely_benign | 0.0881 | benign | -0.506 | Destabilizing | 0.992 | D | 0.391 | neutral | N | 0.482600933 | None | None | N |
| V/K | 0.92 | likely_pathogenic | 0.9116 | pathogenic | -0.979 | Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| V/L | 0.5395 | ambiguous | 0.5129 | ambiguous | -0.506 | Destabilizing | 0.992 | D | 0.401 | neutral | D | 0.527218502 | None | None | N |
| V/M | 0.3817 | ambiguous | 0.3764 | ambiguous | -0.566 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| V/N | 0.8436 | likely_pathogenic | 0.8397 | pathogenic | -0.857 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| V/P | 0.7121 | likely_pathogenic | 0.6686 | pathogenic | -0.727 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/Q | 0.8813 | likely_pathogenic | 0.8714 | pathogenic | -0.952 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | N |
| V/R | 0.9186 | likely_pathogenic | 0.9121 | pathogenic | -0.525 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| V/S | 0.7068 | likely_pathogenic | 0.6962 | pathogenic | -1.482 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| V/T | 0.5383 | ambiguous | 0.5189 | ambiguous | -1.331 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| V/W | 0.9797 | likely_pathogenic | 0.9797 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| V/Y | 0.9144 | likely_pathogenic | 0.9145 | pathogenic | -0.759 | Destabilizing | 0.999 | D | 0.833 | 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.