Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35664 | 107215;107216;107217 | chr2:178528761;178528760;178528759 | chr2:179393488;179393487;179393486 |
| N2AB | 34023 | 102292;102293;102294 | chr2:178528761;178528760;178528759 | chr2:179393488;179393487;179393486 |
| N2A | 33096 | 99511;99512;99513 | chr2:178528761;178528760;178528759 | chr2:179393488;179393487;179393486 |
| N2B | 26599 | 80020;80021;80022 | chr2:178528761;178528760;178528759 | chr2:179393488;179393487;179393486 |
| Novex-1 | 26724 | 80395;80396;80397 | chr2:178528761;178528760;178528759 | chr2:179393488;179393487;179393486 |
| Novex-2 | 26791 | 80596;80597;80598 | chr2:178528761;178528760;178528759 | chr2:179393488;179393487;179393486 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs781108499  |
-1.529 | 1.0 | N | 0.802 | 0.724 | 0.681819901562 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 1E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs781108499 |
-1.529 | 1.0 | N | 0.802 | 0.724 | 0.681819901562 | gnomAD-4.0.0 | 6.84571E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.83259E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/S | rs1060500501 |
-3.224 | 1.0 | N | 0.856 | 0.79 | 0.917674651404 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| I/S | rs1060500501 |
-3.224 | 1.0 | N | 0.856 | 0.79 | 0.917674651404 | gnomAD-4.0.0 | 6.84664E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99951E-07 | 0 | 0 |
| I/T | None | None | 1.0 | N | 0.812 | 0.724 | 0.81977039619 | gnomAD-4.0.0 | 6.84664E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65788E-05 |
| I/V | rs781108499 |
-1.161 | 0.993 | N | 0.397 | 0.466 | 0.763021800361 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| I/V | rs781108499 |
-1.161 | 0.993 | N | 0.397 | 0.466 | 0.763021800361 | gnomAD-4.0.0 | 1.71143E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04236E-05 | None | 0 | 0 | 1.79977E-05 | 0 | 4.97315E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9457 | likely_pathogenic | 0.9428 | pathogenic | -2.755 | Highly Destabilizing | 0.999 | D | 0.69 | prob.neutral | None | None | None | None | N |
| I/C | 0.98 | likely_pathogenic | 0.9829 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| I/D | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -3.197 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| I/E | 0.9893 | likely_pathogenic | 0.9888 | pathogenic | -2.96 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| I/F | 0.5243 | ambiguous | 0.4676 | ambiguous | -1.672 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.51690009 | None | None | N |
| I/G | 0.9909 | likely_pathogenic | 0.9902 | pathogenic | -3.323 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| I/H | 0.9853 | likely_pathogenic | 0.9838 | pathogenic | -2.777 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| I/K | 0.9585 | likely_pathogenic | 0.9603 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| I/L | 0.271 | likely_benign | 0.243 | benign | -1.106 | Destabilizing | 0.993 | D | 0.416 | neutral | N | 0.515067756 | None | None | N |
| I/M | 0.2669 | likely_benign | 0.2411 | benign | -1.065 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.516655779 | None | None | N |
| I/N | 0.9679 | likely_pathogenic | 0.9657 | pathogenic | -2.675 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.517510868 | None | None | N |
| I/P | 0.9952 | likely_pathogenic | 0.996 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| I/Q | 0.9731 | likely_pathogenic | 0.9712 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| I/R | 0.9376 | likely_pathogenic | 0.9389 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| I/S | 0.9605 | likely_pathogenic | 0.9578 | pathogenic | -3.372 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.517510868 | None | None | N |
| I/T | 0.9627 | likely_pathogenic | 0.9613 | pathogenic | -2.985 | Highly Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.517266557 | None | None | N |
| I/V | 0.1382 | likely_benign | 0.1415 | benign | -1.638 | Destabilizing | 0.993 | D | 0.397 | neutral | N | 0.515312067 | None | None | N |
| I/W | 0.9693 | likely_pathogenic | 0.9655 | pathogenic | -2.099 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| I/Y | 0.9267 | likely_pathogenic | 0.917 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.809 | 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.