Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
| N2AB | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
| N2A | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
| N2B | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
| Novex-1 | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
| Novex-2 | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
| Novex-3 | 127 | 604;605;606 | chr2:178800599;178800598;178800597 | chr2:179665326;179665325;179665324 |
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/M | rs749010768  |
-1.135 | 1.0 | D | 0.754 | 0.656 | 0.721716469435 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -1.464(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| V/M | rs749010768 |
-1.135 | 1.0 | D | 0.754 | 0.656 | 0.721716469435 | gnomAD-4.0.0 | 4.1051E-06 | None | None | None | -1.464(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39655E-06 | 0 | 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 | 0.8413 | likely_pathogenic | 0.8675 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.62 | neutral | D | 0.523338387 | None | -0.589(TCAP) | N |
| V/C | 0.9838 | likely_pathogenic | 0.9887 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | -1.239(TCAP) | N |
| V/D | 0.9966 | likely_pathogenic | 0.9973 | pathogenic | -2.951 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | -0.879(TCAP) | N |
| V/E | 0.9889 | likely_pathogenic | 0.991 | pathogenic | -2.678 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.813359764 | None | -1.054(TCAP) | N |
| V/F | 0.908 | likely_pathogenic | 0.9249 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | -1.498(TCAP) | N |
| V/G | 0.9149 | likely_pathogenic | 0.9301 | pathogenic | -2.703 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.711827291 | None | -0.436(TCAP) | N |
| V/H | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.541 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | -0.563(TCAP) | N |
| V/I | 0.1947 | likely_benign | 0.207 | benign | -0.497 | Destabilizing | 0.979 | D | 0.546 | neutral | None | None | None | -1.105(TCAP) | N |
| V/K | 0.9934 | likely_pathogenic | 0.9948 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | -1.105(TCAP) | N |
| V/L | 0.8185 | likely_pathogenic | 0.8576 | pathogenic | -0.497 | Destabilizing | 0.998 | D | 0.636 | neutral | D | 0.624531641 | None | -1.105(TCAP) | N |
| V/M | 0.843 | likely_pathogenic | 0.8741 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.779120899 | None | -1.464(TCAP) | N |
| V/N | 0.9918 | likely_pathogenic | 0.9934 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | -0.708(TCAP) | N |
| V/P | 0.9929 | likely_pathogenic | 0.9944 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -0.926(TCAP) | N |
| V/Q | 0.9901 | likely_pathogenic | 0.9925 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | -0.871(TCAP) | N |
| V/R | 0.9885 | likely_pathogenic | 0.9907 | pathogenic | -1.604 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | -1.119(TCAP) | N |
| V/S | 0.965 | likely_pathogenic | 0.9714 | pathogenic | -2.65 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -0.354(TCAP) | N |
| V/T | 0.9212 | likely_pathogenic | 0.9351 | pathogenic | -2.233 | Highly Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | -0.568(TCAP) | N |
| V/W | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | -2.005(TCAP) | N |
| V/Y | 0.991 | likely_pathogenic | 0.993 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | -1.544(TCAP) | 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.