Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34430 | 103513;103514;103515 | chr2:178533327;178533326;178533325 | chr2:179398054;179398053;179398052 |
| N2AB | 32789 | 98590;98591;98592 | chr2:178533327;178533326;178533325 | chr2:179398054;179398053;179398052 |
| N2A | 31862 | 95809;95810;95811 | chr2:178533327;178533326;178533325 | chr2:179398054;179398053;179398052 |
| N2B | 25365 | 76318;76319;76320 | chr2:178533327;178533326;178533325 | chr2:179398054;179398053;179398052 |
| Novex-1 | 25490 | 76693;76694;76695 | chr2:178533327;178533326;178533325 | chr2:179398054;179398053;179398052 |
| Novex-2 | 25557 | 76894;76895;76896 | chr2:178533327;178533326;178533325 | chr2:179398054;179398053;179398052 |
| 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/Y | rs751794473  |
0.732 | 1.0 | D | 0.843 | 0.894 | 0.682335091196 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| D/Y | rs751794473 |
0.732 | 1.0 | D | 0.843 | 0.894 | 0.682335091196 | gnomAD-4.0.0 | 7.95646E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.42883E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9837 | likely_pathogenic | 0.9835 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.835 | deleterious | D | 0.629942611 | None | None | N |
| D/C | 0.9955 | likely_pathogenic | 0.995 | pathogenic | 0.218 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/E | 0.9596 | likely_pathogenic | 0.9492 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.604 | neutral | D | 0.616891388 | None | None | N |
| D/F | 0.9933 | likely_pathogenic | 0.9926 | pathogenic | 0.904 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/G | 0.9868 | likely_pathogenic | 0.9861 | pathogenic | -0.234 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.655682527 | None | None | N |
| D/H | 0.9558 | likely_pathogenic | 0.9532 | pathogenic | 0.502 | Stabilizing | 1.0 | D | 0.821 | deleterious | D | 0.585306277 | None | None | N |
| D/I | 0.996 | likely_pathogenic | 0.9956 | pathogenic | 1.511 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/K | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/L | 0.9915 | likely_pathogenic | 0.9906 | pathogenic | 1.511 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/M | 0.995 | likely_pathogenic | 0.9943 | pathogenic | 1.936 | Stabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/N | 0.8725 | likely_pathogenic | 0.8528 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.608826346 | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | 1.116 | Stabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/Q | 0.9919 | likely_pathogenic | 0.9904 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/R | 0.9973 | likely_pathogenic | 0.9972 | pathogenic | 0.029 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/S | 0.9697 | likely_pathogenic | 0.9675 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/T | 0.9931 | likely_pathogenic | 0.9922 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/V | 0.9857 | likely_pathogenic | 0.9856 | pathogenic | 1.116 | Stabilizing | 1.0 | D | 0.827 | deleterious | D | 0.656086135 | None | None | N |
| D/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | 0.941 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/Y | 0.948 | likely_pathogenic | 0.943 | pathogenic | 1.161 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.63986497 | 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.