Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15544 | 46855;46856;46857 | chr2:178619687;178619686;178619685 | chr2:179484414;179484413;179484412 |
| N2AB | 13903 | 41932;41933;41934 | chr2:178619687;178619686;178619685 | chr2:179484414;179484413;179484412 |
| N2A | 12976 | 39151;39152;39153 | chr2:178619687;178619686;178619685 | chr2:179484414;179484413;179484412 |
| N2B | 6479 | 19660;19661;19662 | chr2:178619687;178619686;178619685 | chr2:179484414;179484413;179484412 |
| Novex-1 | 6604 | 20035;20036;20037 | chr2:178619687;178619686;178619685 | chr2:179484414;179484413;179484412 |
| Novex-2 | 6671 | 20236;20237;20238 | chr2:178619687;178619686;178619685 | chr2:179484414;179484413;179484412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs748932192  |
0.115 | 1.0 | D | 0.79 | 0.531 | 0.672978241467 | gnomAD-2.1.1 | 4.44E-05 | None | None | None | None | N | None | 1.94301E-04 | 0 | None | 0 | 0 | None | 1.30804E-04 | None | 0 | 3.57E-05 | 0 |
| R/C | rs748932192 |
0.115 | 1.0 | D | 0.79 | 0.531 | 0.672978241467 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs748932192 |
0.115 | 1.0 | D | 0.79 | 0.531 | 0.672978241467 | gnomAD-4.0.0 | 1.24062E-05 | None | None | None | None | N | None | 2.6753E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63426E-06 | 8.79082E-05 | 1.60303E-05 |
| R/H | rs772760901 |
-0.639 | 1.0 | D | 0.784 | 0.519 | 0.610312411291 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.6E-05 | None | 3.27E-05 | None | 0 | 2.68E-05 | 0 |
| R/H | rs772760901 |
-0.639 | 1.0 | D | 0.784 | 0.519 | 0.610312411291 | gnomAD-4.0.0 | 5.47836E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.57652E-05 | None | 0 | 0 | 3.60042E-06 | 1.1602E-05 | 0 |
| R/L | None | None | 1.0 | D | 0.631 | 0.565 | 0.670669281473 | gnomAD-4.0.0 | 6.84795E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00105E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5825 | likely_pathogenic | 0.5862 | pathogenic | -0.06 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| R/C | 0.4779 | ambiguous | 0.5326 | ambiguous | -0.098 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.535620932 | None | None | N |
| R/D | 0.8312 | likely_pathogenic | 0.815 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/E | 0.5765 | likely_pathogenic | 0.5698 | pathogenic | -0.035 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| R/F | 0.7895 | likely_pathogenic | 0.8048 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| R/G | 0.4344 | ambiguous | 0.4472 | ambiguous | -0.274 | Destabilizing | 1.0 | D | 0.631 | neutral | D | 0.536483386 | None | None | N |
| R/H | 0.2905 | likely_benign | 0.3409 | ambiguous | -0.847 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.535821858 | None | None | N |
| R/I | 0.526 | ambiguous | 0.5202 | ambiguous | 0.47 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| R/K | 0.1783 | likely_benign | 0.2124 | benign | -0.122 | Destabilizing | 0.998 | D | 0.544 | neutral | None | None | None | None | N |
| R/L | 0.5162 | ambiguous | 0.5406 | ambiguous | 0.47 | Stabilizing | 1.0 | D | 0.631 | neutral | D | 0.535821858 | None | None | N |
| R/M | 0.563 | ambiguous | 0.5665 | pathogenic | 0.099 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| R/N | 0.7985 | likely_pathogenic | 0.7859 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| R/P | 0.7661 | likely_pathogenic | 0.7859 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.535821858 | None | None | N |
| R/Q | 0.235 | likely_benign | 0.2718 | benign | 0.065 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/S | 0.7051 | likely_pathogenic | 0.7067 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.433900343 | None | None | N |
| R/T | 0.5429 | ambiguous | 0.5325 | ambiguous | 0.018 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/V | 0.6111 | likely_pathogenic | 0.6163 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| R/W | 0.3571 | ambiguous | 0.3923 | ambiguous | -0.284 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| R/Y | 0.6559 | likely_pathogenic | 0.7035 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.759 | 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.