Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21573 | 64942;64943;64944 | chr2:178584924;178584923;178584922 | chr2:179449651;179449650;179449649 |
| N2AB | 19932 | 60019;60020;60021 | chr2:178584924;178584923;178584922 | chr2:179449651;179449650;179449649 |
| N2A | 19005 | 57238;57239;57240 | chr2:178584924;178584923;178584922 | chr2:179449651;179449650;179449649 |
| N2B | 12508 | 37747;37748;37749 | chr2:178584924;178584923;178584922 | chr2:179449651;179449650;179449649 |
| Novex-1 | 12633 | 38122;38123;38124 | chr2:178584924;178584923;178584922 | chr2:179449651;179449650;179449649 |
| Novex-2 | 12700 | 38323;38324;38325 | chr2:178584924;178584923;178584922 | chr2:179449651;179449650;179449649 |
| 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/E | rs727504967  |
-0.029 | 1.0 | N | 0.437 | 0.308 | 0.0806252709748 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs727504967 |
-0.029 | 1.0 | N | 0.437 | 0.308 | 0.0806252709748 | gnomAD-4.0.0 | 6.84424E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52589E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs760347376 |
-0.227 | 1.0 | N | 0.726 | 0.412 | 0.268660756437 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs760347376 |
-0.227 | 1.0 | N | 0.726 | 0.412 | 0.268660756437 | gnomAD-4.0.0 | 6.36955E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.21014E-04 |
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 | 0.4422 | ambiguous | 0.4855 | ambiguous | -0.528 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.479115124 | None | None | I |
| D/C | 0.8764 | likely_pathogenic | 0.8462 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| D/E | 0.5216 | ambiguous | 0.4917 | ambiguous | -0.758 | Destabilizing | 1.0 | D | 0.437 | neutral | N | 0.48775325 | None | None | I |
| D/F | 0.8486 | likely_pathogenic | 0.8357 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| D/G | 0.3847 | ambiguous | 0.3999 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.465279035 | None | None | I |
| D/H | 0.5714 | likely_pathogenic | 0.5904 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.473074586 | None | None | I |
| D/I | 0.8056 | likely_pathogenic | 0.829 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| D/K | 0.825 | likely_pathogenic | 0.8455 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| D/L | 0.6991 | likely_pathogenic | 0.718 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| D/M | 0.8591 | likely_pathogenic | 0.859 | pathogenic | 0.882 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| D/N | 0.21 | likely_benign | 0.222 | benign | -0.864 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.44973358 | None | None | I |
| D/P | 0.9713 | likely_pathogenic | 0.9776 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| D/Q | 0.7282 | likely_pathogenic | 0.7321 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| D/R | 0.8016 | likely_pathogenic | 0.8254 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| D/S | 0.2158 | likely_benign | 0.2358 | benign | -1.119 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| D/T | 0.3762 | ambiguous | 0.4046 | ambiguous | -0.846 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| D/V | 0.595 | likely_pathogenic | 0.6237 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.801 | deleterious | N | 0.517249438 | None | None | I |
| D/W | 0.9756 | likely_pathogenic | 0.9722 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| D/Y | 0.559 | ambiguous | 0.5755 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.483598224 | None | None | I |
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.