Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32386 | 97381;97382;97383 | chr2:178542698;178542697;178542696 | chr2:179407425;179407424;179407423 |
| N2AB | 30745 | 92458;92459;92460 | chr2:178542698;178542697;178542696 | chr2:179407425;179407424;179407423 |
| N2A | 29818 | 89677;89678;89679 | chr2:178542698;178542697;178542696 | chr2:179407425;179407424;179407423 |
| N2B | 23321 | 70186;70187;70188 | chr2:178542698;178542697;178542696 | chr2:179407425;179407424;179407423 |
| Novex-1 | 23446 | 70561;70562;70563 | chr2:178542698;178542697;178542696 | chr2:179407425;179407424;179407423 |
| Novex-2 | 23513 | 70762;70763;70764 | chr2:178542698;178542697;178542696 | chr2:179407425;179407424;179407423 |
| 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/A | rs750418991  |
0.008 | 0.984 | D | 0.615 | 0.79 | 0.519241965532 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 2.94195E-04 | None | 0 | 0 | 0 |
| G/A | rs750418991 |
0.008 | 0.984 | D | 0.615 | 0.79 | 0.519241965532 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| G/A | rs750418991 |
0.008 | 0.984 | D | 0.615 | 0.79 | 0.519241965532 | gnomAD-4.0.0 | 2.16914E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.8437E-04 | 0 |
| G/R | rs758534800 |
-0.061 | 0.856 | D | 0.599 | 0.745 | 0.68704070261 | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 5.56E-05 | None | 3.27E-05 | None | 0 | 7.11E-05 | 0 |
| G/R | rs758534800 |
-0.061 | 0.856 | D | 0.599 | 0.745 | 0.68704070261 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 7.24E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 4.14422E-04 | 0 |
| G/R | rs758534800 |
-0.061 | 0.856 | D | 0.599 | 0.745 | 0.68704070261 | gnomAD-4.0.0 | 3.9044E-05 | None | None | None | None | I | None | 6.67682E-05 | 5.00067E-05 | None | 0 | 2.22767E-05 | None | 0 | 0 | 4.23837E-05 | 3.29453E-05 | 1.60113E-05 |
| G/V | None | None | 0.998 | D | 0.779 | 0.763 | 0.776871967568 | gnomAD-4.0.0 | 6.84273E-07 | None | None | None | None | I | None | 2.98864E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5414 | ambiguous | 0.4371 | ambiguous | -0.239 | Destabilizing | 0.984 | D | 0.615 | neutral | D | 0.579012855 | None | None | I |
| G/C | 0.8052 | likely_pathogenic | 0.7107 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/D | 0.9132 | likely_pathogenic | 0.8575 | pathogenic | -0.729 | Destabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | I |
| G/E | 0.9406 | likely_pathogenic | 0.899 | pathogenic | -0.907 | Destabilizing | 0.996 | D | 0.787 | deleterious | D | 0.547489011 | None | None | I |
| G/F | 0.9855 | likely_pathogenic | 0.9739 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/H | 0.9705 | likely_pathogenic | 0.9428 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/I | 0.9684 | likely_pathogenic | 0.9483 | pathogenic | -0.465 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/K | 0.9653 | likely_pathogenic | 0.934 | pathogenic | -0.764 | Destabilizing | 0.993 | D | 0.798 | deleterious | None | None | None | None | I |
| G/L | 0.9707 | likely_pathogenic | 0.9465 | pathogenic | -0.465 | Destabilizing | 0.997 | D | 0.786 | deleterious | None | None | None | None | I |
| G/M | 0.971 | likely_pathogenic | 0.9487 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9252 | likely_pathogenic | 0.8723 | pathogenic | -0.395 | Destabilizing | 0.997 | D | 0.763 | deleterious | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9973 | pathogenic | -0.36 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Q | 0.9342 | likely_pathogenic | 0.8851 | pathogenic | -0.715 | Destabilizing | 0.997 | D | 0.82 | deleterious | None | None | None | None | I |
| G/R | 0.916 | likely_pathogenic | 0.8577 | pathogenic | -0.303 | Destabilizing | 0.856 | D | 0.599 | neutral | D | 0.604752771 | None | None | I |
| G/S | 0.5023 | ambiguous | 0.4011 | ambiguous | -0.479 | Destabilizing | 0.997 | D | 0.774 | deleterious | None | None | None | None | I |
| G/T | 0.8596 | likely_pathogenic | 0.7834 | pathogenic | -0.598 | Destabilizing | 0.997 | D | 0.792 | deleterious | None | None | None | None | I |
| G/V | 0.9237 | likely_pathogenic | 0.8772 | pathogenic | -0.36 | Destabilizing | 0.998 | D | 0.779 | deleterious | D | 0.589106658 | None | None | I |
| G/W | 0.974 | likely_pathogenic | 0.9571 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Y | 0.9726 | likely_pathogenic | 0.9507 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.829 | 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.