Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8648 | 26167;26168;26169 | chr2:178715244;178715243;178715242 | chr2:179579971;179579970;179579969 |
| N2AB | 8331 | 25216;25217;25218 | chr2:178715244;178715243;178715242 | chr2:179579971;179579970;179579969 |
| N2A | 7404 | 22435;22436;22437 | chr2:178715244;178715243;178715242 | chr2:179579971;179579970;179579969 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs188234466  |
0.264 | 0.009 | N | 0.24 | 0.065 | None | gnomAD-2.1.1 | 4.56E-05 | None | None | None | None | N | None | 0 | 3.34428E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/E | rs188234466 |
0.264 | 0.009 | N | 0.24 | 0.065 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 0 | 5.89391E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 9.56938E-04 |
| K/E | rs188234466 |
0.264 | 0.009 | N | 0.24 | 0.065 | None | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 4.3E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/E | rs188234466 |
0.264 | 0.009 | N | 0.24 | 0.065 | None | gnomAD-4.0.0 | 2.24337E-05 | None | None | None | None | N | None | 0 | 5.81973E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.22549E-05 |
| K/M | rs2077303070 |
None | 0.012 | N | 0.287 | 0.131 | 0.197625483188 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/M | rs2077303070 |
None | 0.012 | N | 0.287 | 0.131 | 0.197625483188 | gnomAD-4.0.0 | 1.31461E-05 | None | None | None | None | N | None | 0 | 1.30924E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3243 | likely_benign | 0.3115 | benign | -0.596 | Destabilizing | None | N | 0.133 | neutral | None | None | None | None | N |
| K/C | 0.6742 | likely_pathogenic | 0.6385 | pathogenic | -0.321 | Destabilizing | 0.514 | D | 0.271 | neutral | None | None | None | None | N |
| K/D | 0.6104 | likely_pathogenic | 0.6291 | pathogenic | -0.152 | Destabilizing | 0.019 | N | 0.323 | neutral | None | None | None | None | N |
| K/E | 0.1873 | likely_benign | 0.2023 | benign | -0.024 | Destabilizing | 0.009 | N | 0.24 | neutral | N | 0.436641278 | None | None | N |
| K/F | 0.5661 | likely_pathogenic | 0.549 | ambiguous | -0.075 | Destabilizing | 0.052 | N | 0.32 | neutral | None | None | None | None | N |
| K/G | 0.4769 | ambiguous | 0.4688 | ambiguous | -0.988 | Destabilizing | 0.008 | N | 0.369 | neutral | None | None | None | None | N |
| K/H | 0.3157 | likely_benign | 0.3091 | benign | -1.342 | Destabilizing | 0.054 | N | 0.287 | neutral | None | None | None | None | N |
| K/I | 0.1973 | likely_benign | 0.1994 | benign | 0.435 | Stabilizing | None | N | 0.384 | neutral | None | None | None | None | N |
| K/L | 0.2469 | likely_benign | 0.2536 | benign | 0.435 | Stabilizing | None | N | 0.182 | neutral | None | None | None | None | N |
| K/M | 0.1386 | likely_benign | 0.1443 | benign | 0.269 | Stabilizing | 0.012 | N | 0.287 | neutral | N | 0.464872827 | None | None | N |
| K/N | 0.3565 | ambiguous | 0.375 | ambiguous | -0.401 | Destabilizing | None | N | 0.207 | neutral | N | 0.49080105 | None | None | N |
| K/P | 0.5202 | ambiguous | 0.511 | ambiguous | 0.121 | Stabilizing | 0.074 | N | 0.367 | neutral | None | None | None | None | N |
| K/Q | 0.1268 | likely_benign | 0.1298 | benign | -0.388 | Destabilizing | 0.004 | N | 0.289 | neutral | N | 0.498825888 | None | None | N |
| K/R | 0.0947 | likely_benign | 0.0957 | benign | -0.733 | Destabilizing | 0.005 | N | 0.262 | neutral | N | 0.469927133 | None | None | N |
| K/S | 0.3861 | ambiguous | 0.3836 | ambiguous | -0.98 | Destabilizing | 0.008 | N | 0.277 | neutral | None | None | None | None | N |
| K/T | 0.1581 | likely_benign | 0.1625 | benign | -0.646 | Destabilizing | None | N | 0.169 | neutral | N | 0.455459112 | None | None | N |
| K/V | 0.2274 | likely_benign | 0.2221 | benign | 0.121 | Stabilizing | None | N | 0.157 | neutral | None | None | None | None | N |
| K/W | 0.6719 | likely_pathogenic | 0.6655 | pathogenic | 0.01 | Stabilizing | 0.828 | D | 0.269 | neutral | None | None | None | None | N |
| K/Y | 0.4322 | ambiguous | 0.4258 | ambiguous | 0.247 | Stabilizing | 0.013 | N | 0.297 | neutral | 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.