Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2552 | 7879;7880;7881 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
| N2AB | 2552 | 7879;7880;7881 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
| N2A | 2552 | 7879;7880;7881 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
| N2B | 2506 | 7741;7742;7743 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
| Novex-1 | 2506 | 7741;7742;7743 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
| Novex-2 | 2506 | 7741;7742;7743 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
| Novex-3 | 2552 | 7879;7880;7881 | chr2:178773310;178773309;178773308 | chr2:179638037;179638036;179638035 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | None | N | 0.291 | 0.171 | 0.0611884634855 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85673E-06 | 0 | 0 |
| F/S | rs1308781409  |
-3.233 | 0.667 | D | 0.852 | 0.815 | 0.848244197478 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs1308781409 |
-3.233 | 0.667 | D | 0.852 | 0.815 | 0.848244197478 | gnomAD-4.0.0 | 1.59086E-06 | None | None | None | None | N | None | 0 | 2.2876E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.83 | likely_pathogenic | 0.8001 | pathogenic | -1.738 | Destabilizing | 0.272 | N | 0.805 | deleterious | None | None | None | None | N |
| F/C | 0.6112 | likely_pathogenic | 0.5741 | pathogenic | -1.355 | Destabilizing | 0.958 | D | 0.891 | deleterious | D | 0.734651473 | None | None | N |
| F/D | 0.9868 | likely_pathogenic | 0.9814 | pathogenic | -2.453 | Highly Destabilizing | 0.89 | D | 0.902 | deleterious | None | None | None | None | N |
| F/E | 0.9787 | likely_pathogenic | 0.9704 | pathogenic | -2.224 | Highly Destabilizing | 0.726 | D | 0.903 | deleterious | None | None | None | None | N |
| F/G | 0.9397 | likely_pathogenic | 0.9252 | pathogenic | -2.162 | Highly Destabilizing | 0.726 | D | 0.885 | deleterious | None | None | None | None | N |
| F/H | 0.9146 | likely_pathogenic | 0.8914 | pathogenic | -1.328 | Destabilizing | 0.968 | D | 0.786 | deleterious | None | None | None | None | N |
| F/I | 0.349 | ambiguous | 0.2946 | benign | -0.37 | Destabilizing | 0.124 | N | 0.655 | neutral | D | 0.656906829 | None | None | N |
| F/K | 0.9703 | likely_pathogenic | 0.9588 | pathogenic | -1.829 | Destabilizing | 0.726 | D | 0.903 | deleterious | None | None | None | None | N |
| F/L | 0.3902 | ambiguous | 0.3907 | ambiguous | -0.37 | Destabilizing | None | N | 0.291 | neutral | N | 0.496925196 | None | None | N |
| F/M | 0.3282 | likely_benign | 0.3236 | benign | -0.348 | Destabilizing | 0.396 | N | 0.667 | neutral | None | None | None | None | N |
| F/N | 0.9624 | likely_pathogenic | 0.9516 | pathogenic | -2.484 | Highly Destabilizing | 0.89 | D | 0.907 | deleterious | None | None | None | None | N |
| F/P | 0.994 | likely_pathogenic | 0.9904 | pathogenic | -0.835 | Destabilizing | 0.89 | D | 0.915 | deleterious | None | None | None | None | N |
| F/Q | 0.9467 | likely_pathogenic | 0.9352 | pathogenic | -2.191 | Highly Destabilizing | 0.89 | D | 0.917 | deleterious | None | None | None | None | N |
| F/R | 0.9479 | likely_pathogenic | 0.9294 | pathogenic | -1.877 | Destabilizing | 0.726 | D | 0.903 | deleterious | None | None | None | None | N |
| F/S | 0.9159 | likely_pathogenic | 0.8915 | pathogenic | -2.949 | Highly Destabilizing | 0.667 | D | 0.852 | deleterious | D | 0.734651473 | None | None | N |
| F/T | 0.8901 | likely_pathogenic | 0.8642 | pathogenic | -2.594 | Highly Destabilizing | 0.567 | D | 0.853 | deleterious | None | None | None | None | N |
| F/V | 0.4232 | ambiguous | 0.3692 | ambiguous | -0.835 | Destabilizing | 0.124 | N | 0.743 | deleterious | D | 0.680763174 | None | None | N |
| F/W | 0.5318 | ambiguous | 0.4659 | ambiguous | 0.047 | Stabilizing | 0.968 | D | 0.677 | prob.neutral | None | None | None | None | N |
| F/Y | 0.3803 | ambiguous | 0.3497 | ambiguous | -0.245 | Destabilizing | 0.364 | N | 0.619 | neutral | D | 0.697222564 | 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.