Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29563 | 88912;88913;88914 | chr2:178554660;178554659;178554658 | chr2:179419387;179419386;179419385 |
| N2AB | 27922 | 83989;83990;83991 | chr2:178554660;178554659;178554658 | chr2:179419387;179419386;179419385 |
| N2A | 26995 | 81208;81209;81210 | chr2:178554660;178554659;178554658 | chr2:179419387;179419386;179419385 |
| N2B | 20498 | 61717;61718;61719 | chr2:178554660;178554659;178554658 | chr2:179419387;179419386;179419385 |
| Novex-1 | 20623 | 62092;62093;62094 | chr2:178554660;178554659;178554658 | chr2:179419387;179419386;179419385 |
| Novex-2 | 20690 | 62293;62294;62295 | chr2:178554660;178554659;178554658 | chr2:179419387;179419386;179419385 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1335432771  |
None | 1.0 | N | 0.744 | 0.546 | 0.413503789086 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1335432771 |
None | 1.0 | N | 0.744 | 0.546 | 0.413503789086 | gnomAD-4.0.0 | 1.859E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.22836E-05 | None | 0 | 0 | 8.47587E-07 | 0 | 1.60113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6026 | likely_pathogenic | 0.6836 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.490517132 | None | None | I |
| G/C | 0.6388 | likely_pathogenic | 0.7228 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.516498653 | None | None | I |
| G/D | 0.8715 | likely_pathogenic | 0.8889 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.50215338 | None | None | I |
| G/E | 0.8968 | likely_pathogenic | 0.9112 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/F | 0.9453 | likely_pathogenic | 0.9581 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/H | 0.9203 | likely_pathogenic | 0.9348 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/I | 0.9517 | likely_pathogenic | 0.9632 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/K | 0.9305 | likely_pathogenic | 0.9367 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/L | 0.9197 | likely_pathogenic | 0.939 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9301 | likely_pathogenic | 0.9485 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.821 | likely_pathogenic | 0.8418 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| G/P | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/Q | 0.8759 | likely_pathogenic | 0.8917 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/R | 0.8502 | likely_pathogenic | 0.8746 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.482656773 | None | None | I |
| G/S | 0.4594 | ambiguous | 0.5221 | ambiguous | -0.273 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.489249684 | None | None | I |
| G/T | 0.8578 | likely_pathogenic | 0.8878 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/V | 0.9102 | likely_pathogenic | 0.9345 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.53836189 | None | None | I |
| G/W | 0.9356 | likely_pathogenic | 0.957 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Y | 0.92 | likely_pathogenic | 0.9414 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | 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.