Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28709 | 86350;86351;86352 | chr2:178560007;178560006;178560005 | chr2:179424734;179424733;179424732 |
| N2AB | 27068 | 81427;81428;81429 | chr2:178560007;178560006;178560005 | chr2:179424734;179424733;179424732 |
| N2A | 26141 | 78646;78647;78648 | chr2:178560007;178560006;178560005 | chr2:179424734;179424733;179424732 |
| N2B | 19644 | 59155;59156;59157 | chr2:178560007;178560006;178560005 | chr2:179424734;179424733;179424732 |
| Novex-1 | 19769 | 59530;59531;59532 | chr2:178560007;178560006;178560005 | chr2:179424734;179424733;179424732 |
| Novex-2 | 19836 | 59731;59732;59733 | chr2:178560007;178560006;178560005 | chr2:179424734;179424733;179424732 |
| 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/K | rs562860372  |
0.215 | 0.999 | N | 0.608 | 0.392 | 0.337135696972 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| E/K | rs562860372 |
0.215 | 0.999 | N | 0.608 | 0.392 | 0.337135696972 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs562860372 |
0.215 | 0.999 | N | 0.608 | 0.392 | 0.337135696972 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| E/K | rs562860372 |
0.215 | 0.999 | N | 0.608 | 0.392 | 0.337135696972 | gnomAD-4.0.0 | 6.56754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.675 | 0.247 | 0.364141725642 | gnomAD-4.0.0 | 3.42118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49728E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2036 | likely_benign | 0.1857 | benign | -0.589 | Destabilizing | 0.999 | D | 0.677 | prob.neutral | N | 0.499663755 | None | None | N |
| E/C | 0.8659 | likely_pathogenic | 0.8414 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| E/D | 0.2889 | likely_benign | 0.2636 | benign | -0.685 | Destabilizing | 0.999 | D | 0.487 | neutral | D | 0.523868766 | None | None | N |
| E/F | 0.8572 | likely_pathogenic | 0.8262 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/G | 0.3038 | likely_benign | 0.2752 | benign | -0.934 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.474598015 | None | None | N |
| E/H | 0.5421 | ambiguous | 0.4795 | ambiguous | 0.271 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| E/I | 0.4766 | ambiguous | 0.4137 | ambiguous | 0.345 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| E/K | 0.206 | likely_benign | 0.1779 | benign | 0.117 | Stabilizing | 0.999 | D | 0.608 | neutral | N | 0.490582911 | None | None | N |
| E/L | 0.6046 | likely_pathogenic | 0.5441 | ambiguous | 0.345 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/M | 0.551 | ambiguous | 0.5153 | ambiguous | 0.507 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/N | 0.3573 | ambiguous | 0.329 | benign | -0.672 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| E/P | 0.9749 | likely_pathogenic | 0.9672 | pathogenic | 0.055 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/Q | 0.1456 | likely_benign | 0.1309 | benign | -0.521 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.47730697 | None | None | N |
| E/R | 0.3414 | ambiguous | 0.3016 | benign | 0.471 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| E/S | 0.2206 | likely_benign | 0.2038 | benign | -0.885 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| E/T | 0.2234 | likely_benign | 0.2011 | benign | -0.575 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/V | 0.2881 | likely_benign | 0.2506 | benign | 0.055 | Stabilizing | 1.0 | D | 0.753 | deleterious | N | 0.512921053 | None | None | N |
| E/W | 0.9556 | likely_pathogenic | 0.945 | pathogenic | 0.528 | Stabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/Y | 0.7575 | likely_pathogenic | 0.7093 | pathogenic | 0.49 | Stabilizing | 1.0 | D | 0.781 | 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.