Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8542 | 25849;25850;25851 | chr2:178717110;178717109;178717108 | chr2:179581837;179581836;179581835 |
| N2AB | 8225 | 24898;24899;24900 | chr2:178717110;178717109;178717108 | chr2:179581837;179581836;179581835 |
| N2A | 7298 | 22117;22118;22119 | chr2:178717110;178717109;178717108 | chr2:179581837;179581836;179581835 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs2562832  |
-0.631 | None | N | 0.12 | 0.149 | None | gnomAD-2.1.1 | 3.8209E-02 | None | None | None | None | N | None | 5.25184E-03 | 4.11918E-02 | None | 2.6285E-02 | 2.08513E-01 | None | 8.40888E-03 | None | 5.02373E-02 | 2.36813E-02 | 3.20531E-02 |
| Q/H | rs2562832 |
-0.631 | None | N | 0.12 | 0.149 | None | gnomAD-3.1.2 | 2.59822E-02 | None | None | None | None | N | None | 5.06634E-03 | 2.67986E-02 | 3.07018E-02 | 2.93948E-02 | 1.90789E-01 | None | 4.72909E-02 | 6.32911E-03 | 2.35687E-02 | 1.20133E-02 | 2.53589E-02 |
| Q/H | rs2562832 |
-0.631 | None | N | 0.12 | 0.149 | None | 1000 genomes | 5.13179E-02 | None | None | None | None | N | None | 1.5E-03 | 2.74E-02 | None | None | 1.964E-01 | 2.88E-02 | None | None | None | 9.2E-03 | None |
| Q/H | rs2562832 |
-0.631 | None | N | 0.12 | 0.149 | None | gnomAD-4.0.0 | 2.73129E-02 | None | None | None | None | N | None | 4.69584E-03 | 3.59919E-02 | None | 2.53743E-02 | 1.90868E-01 | None | 5.06979E-02 | 9.93049E-03 | 2.23139E-02 | 9.47257E-03 | 2.7727E-02 |
| Q/P | None | None | None | D | None | 0.299 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1608 | likely_benign | 0.1581 | benign | -0.855 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.4838 | ambiguous | 0.5034 | ambiguous | -0.208 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.255 | likely_benign | 0.2465 | benign | -0.432 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.0838 | likely_benign | 0.0807 | benign | -0.337 | Destabilizing | None | None | None | None | N | 0.440183882 | None | None | N |
| Q/F | 0.3565 | ambiguous | 0.3628 | ambiguous | -0.713 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.2366 | likely_benign | 0.2354 | benign | -1.183 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.1086 | likely_benign | 0.1036 | benign | -1.009 | Destabilizing | None | N | 0.12 | neutral | N | 0.502909996 | None | None | N |
| Q/I | 0.2111 | likely_benign | 0.2038 | benign | -0.023 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.0904 | likely_benign | 0.0896 | benign | -0.16 | Destabilizing | None | None | None | None | N | 0.451979743 | None | None | N |
| Q/L | 0.0859 | likely_benign | 0.0864 | benign | -0.023 | Destabilizing | None | None | None | None | N | 0.49986969 | None | None | N |
| Q/M | 0.2523 | likely_benign | 0.2458 | benign | 0.466 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.1764 | likely_benign | 0.1716 | benign | -0.774 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.1347 | likely_benign | 0.1286 | benign | -0.27 | Destabilizing | None | None | None | None | D | 0.523285268 | None | None | N |
| Q/R | 0.0887 | likely_benign | 0.0898 | benign | -0.096 | Destabilizing | None | None | None | None | N | 0.455174764 | None | None | N |
| Q/S | 0.1598 | likely_benign | 0.1588 | benign | -0.941 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.1394 | likely_benign | 0.1379 | benign | -0.641 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.1393 | likely_benign | 0.1359 | benign | -0.27 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.2719 | likely_benign | 0.2802 | benign | -0.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.218 | likely_benign | 0.2186 | benign | -0.282 | Destabilizing | None | None | None | None | 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.