Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20035 | 60328;60329;60330 | chr2:178591716;178591715;178591714 | chr2:179456443;179456442;179456441 |
| N2AB | 18394 | 55405;55406;55407 | chr2:178591716;178591715;178591714 | chr2:179456443;179456442;179456441 |
| N2A | 17467 | 52624;52625;52626 | chr2:178591716;178591715;178591714 | chr2:179456443;179456442;179456441 |
| N2B | 10970 | 33133;33134;33135 | chr2:178591716;178591715;178591714 | chr2:179456443;179456442;179456441 |
| Novex-1 | 11095 | 33508;33509;33510 | chr2:178591716;178591715;178591714 | chr2:179456443;179456442;179456441 |
| Novex-2 | 11162 | 33709;33710;33711 | chr2:178591716;178591715;178591714 | chr2:179456443;179456442;179456441 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | rs774488793  |
-0.954 | 0.999 | N | 0.751 | 0.402 | 0.766156292133 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.89E-06 | 0 |
| C/F | rs774488793 |
-0.954 | 0.999 | N | 0.751 | 0.402 | 0.766156292133 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| C/F | rs774488793 |
-0.954 | 0.999 | N | 0.751 | 0.402 | 0.766156292133 | gnomAD-4.0.0 | 5.57882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 2.54335E-06 | 3.2946E-05 | 3.20246E-05 |
| C/R | None | None | 0.997 | N | 0.803 | 0.465 | 0.84113199936 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.21507E-04 | 0 |
| C/Y | rs774488793 |
-1.035 | 0.999 | N | 0.761 | 0.406 | 0.675375996808 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 2.29674E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs774488793 |
-1.035 | 0.999 | N | 0.761 | 0.406 | 0.675375996808 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/Y | rs774488793 |
-1.035 | 0.999 | N | 0.761 | 0.406 | 0.675375996808 | gnomAD-4.0.0 | 1.85961E-06 | None | None | None | None | N | None | 4.00684E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4262 | ambiguous | 0.3911 | ambiguous | -1.497 | Destabilizing | 0.931 | D | 0.575 | neutral | None | None | None | None | N |
| C/D | 0.9295 | likely_pathogenic | 0.923 | pathogenic | -0.384 | Destabilizing | 0.996 | D | 0.765 | deleterious | None | None | None | None | N |
| C/E | 0.9496 | likely_pathogenic | 0.9449 | pathogenic | -0.192 | Destabilizing | 0.996 | D | 0.768 | deleterious | None | None | None | None | N |
| C/F | 0.3625 | ambiguous | 0.3578 | ambiguous | -0.92 | Destabilizing | 0.999 | D | 0.751 | deleterious | N | 0.474418593 | None | None | N |
| C/G | 0.3492 | ambiguous | 0.3245 | benign | -1.845 | Destabilizing | 0.98 | D | 0.748 | deleterious | N | 0.468317365 | None | None | N |
| C/H | 0.8015 | likely_pathogenic | 0.7931 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/I | 0.6382 | likely_pathogenic | 0.6375 | pathogenic | -0.572 | Destabilizing | 0.998 | D | 0.756 | deleterious | None | None | None | None | N |
| C/K | 0.9752 | likely_pathogenic | 0.9722 | pathogenic | -0.532 | Destabilizing | 0.996 | D | 0.764 | deleterious | None | None | None | None | N |
| C/L | 0.5878 | likely_pathogenic | 0.5995 | pathogenic | -0.572 | Destabilizing | 0.993 | D | 0.681 | prob.neutral | None | None | None | None | N |
| C/M | 0.6159 | likely_pathogenic | 0.6138 | pathogenic | 0.372 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| C/N | 0.7947 | likely_pathogenic | 0.775 | pathogenic | -1.061 | Destabilizing | 0.996 | D | 0.767 | deleterious | None | None | None | None | N |
| C/P | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -0.856 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | None | None | N |
| C/Q | 0.9096 | likely_pathogenic | 0.8989 | pathogenic | -0.689 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | N |
| C/R | 0.8928 | likely_pathogenic | 0.8841 | pathogenic | -0.73 | Destabilizing | 0.997 | D | 0.803 | deleterious | N | 0.506171716 | None | None | N |
| C/S | 0.4322 | ambiguous | 0.3918 | ambiguous | -1.515 | Destabilizing | 0.449 | N | 0.41 | neutral | N | 0.512958339 | None | None | N |
| C/T | 0.4699 | ambiguous | 0.4498 | ambiguous | -1.111 | Destabilizing | 0.971 | D | 0.675 | prob.neutral | None | None | None | None | N |
| C/V | 0.4941 | ambiguous | 0.4892 | ambiguous | -0.856 | Destabilizing | 0.993 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/W | 0.8048 | likely_pathogenic | 0.7935 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.476711156 | None | None | N |
| C/Y | 0.4681 | ambiguous | 0.4708 | ambiguous | -0.934 | Destabilizing | 0.999 | D | 0.761 | deleterious | N | 0.41282863 | 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.