Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34378 | 103357;103358;103359 | chr2:178533483;178533482;178533481 | chr2:179398210;179398209;179398208 |
| N2AB | 32737 | 98434;98435;98436 | chr2:178533483;178533482;178533481 | chr2:179398210;179398209;179398208 |
| N2A | 31810 | 95653;95654;95655 | chr2:178533483;178533482;178533481 | chr2:179398210;179398209;179398208 |
| N2B | 25313 | 76162;76163;76164 | chr2:178533483;178533482;178533481 | chr2:179398210;179398209;179398208 |
| Novex-1 | 25438 | 76537;76538;76539 | chr2:178533483;178533482;178533481 | chr2:179398210;179398209;179398208 |
| Novex-2 | 25505 | 76738;76739;76740 | chr2:178533483;178533482;178533481 | chr2:179398210;179398209;179398208 |
| 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/P | rs779618819  |
0.215 | 0.985 | D | 0.391 | 0.676 | 0.512825096792 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| Q/P | rs779618819 |
0.215 | 0.985 | D | 0.391 | 0.676 | 0.512825096792 | gnomAD-4.0.0 | 6.36967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14452E-05 | 0 | 0 |
| Q/R | rs779618819 |
0.498 | 0.912 | N | 0.23 | 0.411 | 0.234412748748 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| Q/R | rs779618819 |
0.498 | 0.912 | N | 0.23 | 0.411 | 0.234412748748 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8613E-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 | 0.4869 | ambiguous | 0.5074 | ambiguous | -0.242 | Destabilizing | 0.85 | D | 0.345 | neutral | None | None | None | None | N |
| Q/C | 0.8718 | likely_pathogenic | 0.8486 | pathogenic | 0.403 | Stabilizing | 0.999 | D | 0.418 | neutral | None | None | None | None | N |
| Q/D | 0.5672 | likely_pathogenic | 0.58 | pathogenic | -0.255 | Destabilizing | 0.739 | D | 0.297 | neutral | None | None | None | None | N |
| Q/E | 0.1164 | likely_benign | 0.1265 | benign | -0.291 | Destabilizing | 0.019 | N | 0.114 | neutral | N | 0.44013074 | None | None | N |
| Q/F | 0.8915 | likely_pathogenic | 0.8738 | pathogenic | -0.53 | Destabilizing | 0.99 | D | 0.441 | neutral | None | None | None | None | N |
| Q/G | 0.588 | likely_pathogenic | 0.6181 | pathogenic | -0.429 | Destabilizing | 0.85 | D | 0.359 | neutral | None | None | None | None | N |
| Q/H | 0.4392 | ambiguous | 0.4159 | ambiguous | -0.552 | Destabilizing | 0.031 | N | 0.273 | neutral | N | 0.500163266 | None | None | N |
| Q/I | 0.7528 | likely_pathogenic | 0.7405 | pathogenic | 0.166 | Stabilizing | 0.997 | D | 0.464 | neutral | None | None | None | None | N |
| Q/K | 0.1972 | likely_benign | 0.2173 | benign | 0.161 | Stabilizing | 0.81 | D | 0.33 | neutral | N | 0.480537355 | None | None | N |
| Q/L | 0.3614 | ambiguous | 0.3607 | ambiguous | 0.166 | Stabilizing | 0.955 | D | 0.396 | neutral | D | 0.535430633 | None | None | N |
| Q/M | 0.5316 | ambiguous | 0.5326 | ambiguous | 0.714 | Stabilizing | 0.997 | D | 0.314 | neutral | None | None | None | None | N |
| Q/N | 0.4292 | ambiguous | 0.4019 | ambiguous | -0.104 | Destabilizing | 0.155 | N | 0.125 | neutral | None | None | None | None | N |
| Q/P | 0.9419 | likely_pathogenic | 0.9362 | pathogenic | 0.058 | Stabilizing | 0.985 | D | 0.391 | neutral | D | 0.52242405 | None | None | N |
| Q/R | 0.2438 | likely_benign | 0.2668 | benign | 0.306 | Stabilizing | 0.912 | D | 0.23 | neutral | N | 0.485271171 | None | None | N |
| Q/S | 0.4817 | ambiguous | 0.4829 | ambiguous | -0.11 | Destabilizing | 0.85 | D | 0.29 | neutral | None | None | None | None | N |
| Q/T | 0.4853 | ambiguous | 0.4974 | ambiguous | 0.004 | Stabilizing | 0.932 | D | 0.31 | neutral | None | None | None | None | N |
| Q/V | 0.5812 | likely_pathogenic | 0.5769 | pathogenic | 0.058 | Stabilizing | 0.965 | D | 0.446 | neutral | None | None | None | None | N |
| Q/W | 0.8683 | likely_pathogenic | 0.8643 | pathogenic | -0.502 | Destabilizing | 0.999 | D | 0.42 | neutral | None | None | None | None | N |
| Q/Y | 0.7421 | likely_pathogenic | 0.7235 | pathogenic | -0.226 | Destabilizing | 0.98 | D | 0.398 | 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.