Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25006 | 75241;75242;75243 | chr2:178571116;178571115;178571114 | chr2:179435843;179435842;179435841 |
| N2AB | 23365 | 70318;70319;70320 | chr2:178571116;178571115;178571114 | chr2:179435843;179435842;179435841 |
| N2A | 22438 | 67537;67538;67539 | chr2:178571116;178571115;178571114 | chr2:179435843;179435842;179435841 |
| N2B | 15941 | 48046;48047;48048 | chr2:178571116;178571115;178571114 | chr2:179435843;179435842;179435841 |
| Novex-1 | 16066 | 48421;48422;48423 | chr2:178571116;178571115;178571114 | chr2:179435843;179435842;179435841 |
| Novex-2 | 16133 | 48622;48623;48624 | chr2:178571116;178571115;178571114 | chr2:179435843;179435842;179435841 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs776196707  |
0.185 | 1.0 | N | 0.77 | 0.467 | 0.423716096872 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 1.15942E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs776196707 |
0.185 | 1.0 | N | 0.77 | 0.467 | 0.423716096872 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 2.62192E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs776196707 |
0.185 | 1.0 | N | 0.77 | 0.467 | 0.423716096872 | gnomAD-4.0.0 | 1.15357E-05 | None | None | None | None | I | None | 0 | 1.52573E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1264279589 |
-0.35 | 1.0 | N | 0.799 | 0.416 | 0.332386209738 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/S | rs1264279589 |
-0.35 | 1.0 | N | 0.799 | 0.416 | 0.332386209738 | 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 |
| P/S | rs1264279589 |
-0.35 | 1.0 | N | 0.799 | 0.416 | 0.332386209738 | gnomAD-4.0.0 | 3.09938E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23875E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.102 | likely_benign | 0.134 | benign | -0.365 | Destabilizing | 0.999 | D | 0.763 | deleterious | N | 0.50012615 | None | None | I |
| P/C | 0.5815 | likely_pathogenic | 0.6454 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| P/D | 0.7148 | likely_pathogenic | 0.7914 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| P/E | 0.474 | ambiguous | 0.5791 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| P/F | 0.6317 | likely_pathogenic | 0.7265 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| P/G | 0.5106 | ambiguous | 0.5969 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| P/H | 0.3117 | likely_benign | 0.3872 | ambiguous | 0.005 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| P/I | 0.3573 | ambiguous | 0.4551 | ambiguous | -0.179 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| P/K | 0.3887 | ambiguous | 0.486 | ambiguous | -0.238 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| P/L | 0.1703 | likely_benign | 0.2243 | benign | -0.179 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.48473092 | None | None | I |
| P/M | 0.4314 | ambiguous | 0.5132 | ambiguous | -0.379 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| P/N | 0.5337 | ambiguous | 0.6249 | pathogenic | 0.002 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/Q | 0.2505 | likely_benign | 0.3226 | benign | -0.187 | Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.51427084 | None | None | I |
| P/R | 0.2259 | likely_benign | 0.2892 | benign | 0.2 | Stabilizing | 1.0 | D | 0.77 | deleterious | N | 0.490544271 | None | None | I |
| P/S | 0.2105 | likely_benign | 0.2709 | benign | -0.414 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.48455679 | None | None | I |
| P/T | 0.1735 | likely_benign | 0.2229 | benign | -0.404 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.513510371 | None | None | I |
| P/V | 0.2495 | likely_benign | 0.3192 | benign | -0.207 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| P/W | 0.8253 | likely_pathogenic | 0.884 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| P/Y | 0.6292 | likely_pathogenic | 0.7172 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.761 | 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.