Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34184 | 102775;102776;102777 | chr2:178534065;178534064;178534063 | chr2:179398792;179398791;179398790 |
| N2AB | 32543 | 97852;97853;97854 | chr2:178534065;178534064;178534063 | chr2:179398792;179398791;179398790 |
| N2A | 31616 | 95071;95072;95073 | chr2:178534065;178534064;178534063 | chr2:179398792;179398791;179398790 |
| N2B | 25119 | 75580;75581;75582 | chr2:178534065;178534064;178534063 | chr2:179398792;179398791;179398790 |
| Novex-1 | 25244 | 75955;75956;75957 | chr2:178534065;178534064;178534063 | chr2:179398792;179398791;179398790 |
| Novex-2 | 25311 | 76156;76157;76158 | chr2:178534065;178534064;178534063 | chr2:179398792;179398791;179398790 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs920777916  |
-0.595 | 0.999 | N | 0.655 | 0.62 | 0.499535901811 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/A | rs920777916 |
-0.595 | 0.999 | N | 0.655 | 0.62 | 0.499535901811 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs776306284 |
0.023 | 1.0 | N | 0.581 | 0.403 | 0.374076547971 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 1.59847E-04 | 0 | 1.40213E-04 |
| E/K | rs776306284 |
0.023 | 1.0 | N | 0.581 | 0.403 | 0.374076547971 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 6.59506E-04 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs776306284 |
0.023 | 1.0 | N | 0.581 | 0.403 | 0.374076547971 | gnomAD-4.0.0 | 1.73502E-05 | None | None | None | None | N | None | 0 | 1.6665E-05 | None | 0 | 0 | None | 2.34324E-04 | 0 | 4.23781E-06 | 7.68572E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2952 | likely_benign | 0.298 | benign | -1.074 | Destabilizing | 0.999 | D | 0.655 | neutral | N | 0.515857863 | None | None | N |
| E/C | 0.9182 | likely_pathogenic | 0.9454 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| E/D | 0.3068 | likely_benign | 0.3344 | benign | -1.133 | Destabilizing | 0.999 | D | 0.439 | neutral | N | 0.49734946 | None | None | N |
| E/F | 0.8907 | likely_pathogenic | 0.9091 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| E/G | 0.3981 | ambiguous | 0.4129 | ambiguous | -1.456 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.510702759 | None | None | N |
| E/H | 0.5551 | ambiguous | 0.5718 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| E/I | 0.5362 | ambiguous | 0.5539 | ambiguous | -0.019 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| E/K | 0.2093 | likely_benign | 0.2116 | benign | -0.511 | Destabilizing | 1.0 | D | 0.581 | neutral | N | 0.449304797 | None | None | N |
| E/L | 0.6323 | likely_pathogenic | 0.6539 | pathogenic | -0.019 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| E/M | 0.6191 | likely_pathogenic | 0.6506 | pathogenic | 0.538 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| E/N | 0.4129 | ambiguous | 0.4588 | ambiguous | -1.085 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| E/P | 0.9835 | likely_pathogenic | 0.9853 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| E/Q | 0.1596 | likely_benign | 0.1599 | benign | -0.938 | Destabilizing | 1.0 | D | 0.578 | neutral | N | 0.459945865 | None | None | N |
| E/R | 0.3218 | likely_benign | 0.3196 | benign | -0.303 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| E/S | 0.3041 | likely_benign | 0.3245 | benign | -1.443 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | N |
| E/T | 0.3276 | likely_benign | 0.3446 | ambiguous | -1.103 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| E/V | 0.3623 | ambiguous | 0.3735 | ambiguous | -0.35 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.486575106 | None | None | N |
| E/W | 0.965 | likely_pathogenic | 0.9696 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| E/Y | 0.8264 | likely_pathogenic | 0.8428 | pathogenic | -0.2 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | 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.