Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28490 | 85693;85694;85695 | chr2:178560664;178560663;178560662 | chr2:179425391;179425390;179425389 |
| N2AB | 26849 | 80770;80771;80772 | chr2:178560664;178560663;178560662 | chr2:179425391;179425390;179425389 |
| N2A | 25922 | 77989;77990;77991 | chr2:178560664;178560663;178560662 | chr2:179425391;179425390;179425389 |
| N2B | 19425 | 58498;58499;58500 | chr2:178560664;178560663;178560662 | chr2:179425391;179425390;179425389 |
| Novex-1 | 19550 | 58873;58874;58875 | chr2:178560664;178560663;178560662 | chr2:179425391;179425390;179425389 |
| Novex-2 | 19617 | 59074;59075;59076 | chr2:178560664;178560663;178560662 | chr2:179425391;179425390;179425389 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs772128356  |
-2.165 | 1.0 | D | 0.83 | 0.438 | 0.162503812791 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs772128356 |
-2.165 | 1.0 | D | 0.83 | 0.438 | 0.162503812791 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/N | rs772128356 |
-2.165 | 1.0 | D | 0.83 | 0.438 | 0.162503812791 | gnomAD-4.0.0 | 2.73717E-06 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.97018E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9355 | likely_pathogenic | 0.965 | pathogenic | -1.396 | Destabilizing | 0.999 | D | 0.762 | deleterious | None | None | None | None | N |
| K/C | 0.9001 | likely_pathogenic | 0.9282 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| K/D | 0.9915 | likely_pathogenic | 0.9956 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| K/E | 0.7932 | likely_pathogenic | 0.8953 | pathogenic | -1.424 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | D | 0.53458232 | None | None | N |
| K/F | 0.9633 | likely_pathogenic | 0.9788 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| K/G | 0.9501 | likely_pathogenic | 0.9725 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| K/H | 0.7455 | likely_pathogenic | 0.7939 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| K/I | 0.8371 | likely_pathogenic | 0.9 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.894 | deleterious | N | 0.481697905 | None | None | N |
| K/L | 0.7757 | likely_pathogenic | 0.8527 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| K/M | 0.55 | ambiguous | 0.6735 | pathogenic | -0.241 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| K/N | 0.9563 | likely_pathogenic | 0.9764 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.523226014 | None | None | N |
| K/P | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| K/Q | 0.4399 | ambiguous | 0.5469 | ambiguous | -1.431 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.477471624 | None | None | N |
| K/R | 0.1296 | likely_benign | 0.1315 | benign | -0.896 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | N | 0.476325535 | None | None | N |
| K/S | 0.9477 | likely_pathogenic | 0.9723 | pathogenic | -2.371 | Highly Destabilizing | 0.999 | D | 0.774 | deleterious | None | None | None | None | N |
| K/T | 0.8089 | likely_pathogenic | 0.8851 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.495460521 | None | None | N |
| K/V | 0.81 | likely_pathogenic | 0.8742 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| K/W | 0.9324 | likely_pathogenic | 0.9532 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| K/Y | 0.8561 | likely_pathogenic | 0.8965 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.873 | 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.