Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18811 | 56656;56657;56658 | chr2:178599362;178599361;178599360 | chr2:179464089;179464088;179464087 |
| N2AB | 17170 | 51733;51734;51735 | chr2:178599362;178599361;178599360 | chr2:179464089;179464088;179464087 |
| N2A | 16243 | 48952;48953;48954 | chr2:178599362;178599361;178599360 | chr2:179464089;179464088;179464087 |
| N2B | 9746 | 29461;29462;29463 | chr2:178599362;178599361;178599360 | chr2:179464089;179464088;179464087 |
| Novex-1 | 9871 | 29836;29837;29838 | chr2:178599362;178599361;178599360 | chr2:179464089;179464088;179464087 |
| Novex-2 | 9938 | 30037;30038;30039 | chr2:178599362;178599361;178599360 | chr2:179464089;179464088;179464087 |
| 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/G | None | None | 0.998 | N | 0.674 | 0.537 | 0.409665357357 | gnomAD-4.0.0 | 1.61786E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.49107E-05 | 0 |
| D/N | rs2052663852  |
None | 0.999 | D | 0.697 | 0.395 | 0.439445477881 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs2052663852 |
None | 0.999 | D | 0.697 | 0.395 | 0.439445477881 | gnomAD-4.0.0 | 3.12002E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.25075E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8556 | likely_pathogenic | 0.7869 | pathogenic | -0.268 | Destabilizing | 0.999 | D | 0.653 | neutral | N | 0.487952102 | None | None | I |
| D/C | 0.9664 | likely_pathogenic | 0.9441 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| D/E | 0.612 | likely_pathogenic | 0.5414 | ambiguous | -0.297 | Destabilizing | 0.767 | D | 0.257 | neutral | N | 0.467201275 | None | None | I |
| D/F | 0.955 | likely_pathogenic | 0.9308 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| D/G | 0.8308 | likely_pathogenic | 0.7455 | pathogenic | -0.45 | Destabilizing | 0.998 | D | 0.674 | neutral | N | 0.491092428 | None | None | I |
| D/H | 0.8838 | likely_pathogenic | 0.8284 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.470519411 | None | None | I |
| D/I | 0.9237 | likely_pathogenic | 0.8739 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/K | 0.9539 | likely_pathogenic | 0.9242 | pathogenic | 0.343 | Stabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | I |
| D/L | 0.9197 | likely_pathogenic | 0.8921 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| D/M | 0.9634 | likely_pathogenic | 0.9419 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| D/N | 0.4488 | ambiguous | 0.3622 | ambiguous | 0.131 | Stabilizing | 0.999 | D | 0.697 | prob.neutral | D | 0.522076467 | None | None | I |
| D/P | 0.9955 | likely_pathogenic | 0.9933 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
| D/Q | 0.909 | likely_pathogenic | 0.8594 | pathogenic | 0.154 | Stabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | I |
| D/R | 0.9541 | likely_pathogenic | 0.9203 | pathogenic | 0.399 | Stabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | I |
| D/S | 0.7364 | likely_pathogenic | 0.642 | pathogenic | 0.029 | Stabilizing | 0.997 | D | 0.627 | neutral | None | None | None | None | I |
| D/T | 0.8531 | likely_pathogenic | 0.7772 | pathogenic | 0.168 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/V | 0.8204 | likely_pathogenic | 0.7328 | pathogenic | 0.039 | Stabilizing | 0.999 | D | 0.738 | prob.delet. | N | 0.482191658 | None | None | I |
| D/W | 0.987 | likely_pathogenic | 0.9795 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| D/Y | 0.7578 | likely_pathogenic | 0.6418 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | N | 0.516113287 | 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.