Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16540 | 49843;49844;49845 | chr2:178613191;178613190;178613189 | chr2:179477918;179477917;179477916 |
| N2AB | 14899 | 44920;44921;44922 | chr2:178613191;178613190;178613189 | chr2:179477918;179477917;179477916 |
| N2A | 13972 | 42139;42140;42141 | chr2:178613191;178613190;178613189 | chr2:179477918;179477917;179477916 |
| N2B | 7475 | 22648;22649;22650 | chr2:178613191;178613190;178613189 | chr2:179477918;179477917;179477916 |
| Novex-1 | 7600 | 23023;23024;23025 | chr2:178613191;178613190;178613189 | chr2:179477918;179477917;179477916 |
| Novex-2 | 7667 | 23224;23225;23226 | chr2:178613191;178613190;178613189 | chr2:179477918;179477917;179477916 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1179983336  |
-0.772 | 0.997 | N | 0.628 | 0.3 | 0.282575091529 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/A | rs1179983336 |
-0.772 | 0.997 | N | 0.628 | 0.3 | 0.282575091529 | gnomAD-4.0.0 | 7.53934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.90208E-06 | 0 | 0 |
| T/I | rs1486530087 |
0.227 | 0.999 | N | 0.848 | 0.351 | 0.37281450598 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/I | rs1486530087 |
0.227 | 0.999 | N | 0.848 | 0.351 | 0.37281450598 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1486530087 |
0.227 | 0.999 | N | 0.848 | 0.351 | 0.37281450598 | gnomAD-4.0.0 | 2.57113E-06 | None | None | None | None | N | None | 0 | 1.70375E-05 | None | 0 | 0 | None | 0 | 0 | 2.3987E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.428 | ambiguous | 0.3159 | benign | -0.883 | Destabilizing | 0.997 | D | 0.628 | neutral | N | 0.46694896 | None | None | N |
| T/C | 0.8593 | likely_pathogenic | 0.719 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/D | 0.9585 | likely_pathogenic | 0.9347 | pathogenic | -0.857 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| T/E | 0.9573 | likely_pathogenic | 0.9415 | pathogenic | -0.659 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| T/F | 0.9542 | likely_pathogenic | 0.9255 | pathogenic | -0.549 | Destabilizing | 0.999 | D | 0.893 | deleterious | None | None | None | None | N |
| T/G | 0.7329 | likely_pathogenic | 0.567 | pathogenic | -1.305 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| T/H | 0.9507 | likely_pathogenic | 0.9048 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| T/I | 0.8486 | likely_pathogenic | 0.8229 | pathogenic | 0.22 | Stabilizing | 0.999 | D | 0.848 | deleterious | N | 0.459434046 | None | None | N |
| T/K | 0.9584 | likely_pathogenic | 0.9485 | pathogenic | -0.279 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| T/L | 0.5637 | ambiguous | 0.5071 | ambiguous | 0.22 | Stabilizing | 0.998 | D | 0.733 | deleterious | None | None | None | None | N |
| T/M | 0.4534 | ambiguous | 0.3966 | ambiguous | 0.123 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/N | 0.7844 | likely_pathogenic | 0.6567 | pathogenic | -0.919 | Destabilizing | 0.999 | D | 0.78 | deleterious | D | 0.606990951 | None | None | N |
| T/P | 0.8311 | likely_pathogenic | 0.7479 | pathogenic | -0.115 | Destabilizing | 0.999 | D | 0.832 | deleterious | N | 0.50112752 | None | None | N |
| T/Q | 0.9287 | likely_pathogenic | 0.891 | pathogenic | -0.664 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| T/R | 0.9438 | likely_pathogenic | 0.9367 | pathogenic | -0.54 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| T/S | 0.3724 | ambiguous | 0.2171 | benign | -1.187 | Destabilizing | 0.997 | D | 0.621 | neutral | N | 0.345128506 | None | None | N |
| T/V | 0.6349 | likely_pathogenic | 0.5787 | pathogenic | -0.115 | Destabilizing | 0.998 | D | 0.658 | prob.neutral | None | None | None | None | N |
| T/W | 0.9888 | likely_pathogenic | 0.9831 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| T/Y | 0.9749 | likely_pathogenic | 0.9554 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.899 | 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.