Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6249 | 18970;18971;18972 | chr2:178729411;178729410;178729409 | chr2:179594138;179594137;179594136 |
| N2AB | 5932 | 18019;18020;18021 | chr2:178729411;178729410;178729409 | chr2:179594138;179594137;179594136 |
| N2A | 5005 | 15238;15239;15240 | chr2:178729411;178729410;178729409 | chr2:179594138;179594137;179594136 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs774843545  |
-0.104 | None | N | 0.247 | 0.066 | 0.222439326576 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 1.45028E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs774843545 |
-0.104 | None | N | 0.247 | 0.066 | 0.222439326576 | gnomAD-4.0.0 | 3.42138E-06 | None | None | None | None | N | None | 0 | 1.11857E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs201263441 |
-0.462 | 0.248 | N | 0.501 | 0.086 | None | gnomAD-2.1.1 | 3.722E-04 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 8.6257E-03 | 0 | None | 3.27E-05 | None | 0 | 6.28E-05 | 5.61956E-04 |
| D/N | rs201263441 |
-0.462 | 0.248 | N | 0.501 | 0.086 | None | gnomAD-3.1.2 | 2.10396E-04 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 7.20461E-03 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| D/N | rs201263441 |
-0.462 | 0.248 | N | 0.501 | 0.086 | None | gnomAD-4.0.0 | 1.87172E-04 | None | None | None | None | N | None | 1.33536E-05 | 5.00334E-05 | None | 7.60443E-03 | 0 | None | 0 | 0 | 3.39077E-05 | 2.19568E-05 | 4.96397E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1258 | likely_benign | 0.1448 | benign | -0.492 | Destabilizing | 0.012 | N | 0.535 | neutral | N | 0.459540433 | None | None | N |
| D/C | 0.459 | ambiguous | 0.5499 | ambiguous | -0.168 | Destabilizing | 0.001 | N | 0.498 | neutral | None | None | None | None | N |
| D/E | 0.1143 | likely_benign | 0.1418 | benign | -0.371 | Destabilizing | None | N | 0.247 | neutral | N | 0.434124701 | None | None | N |
| D/F | 0.4745 | ambiguous | 0.5563 | ambiguous | -0.029 | Destabilizing | 0.214 | N | 0.655 | neutral | None | None | None | None | N |
| D/G | 0.1112 | likely_benign | 0.1234 | benign | -0.785 | Destabilizing | None | N | 0.345 | neutral | N | 0.463967605 | None | None | N |
| D/H | 0.1749 | likely_benign | 0.1919 | benign | -0.044 | Destabilizing | 0.001 | N | 0.4 | neutral | N | 0.469720142 | None | None | N |
| D/I | 0.3537 | ambiguous | 0.4454 | ambiguous | 0.266 | Stabilizing | 0.038 | N | 0.663 | neutral | None | None | None | None | N |
| D/K | 0.2043 | likely_benign | 0.2406 | benign | -0.005 | Destabilizing | 0.016 | N | 0.525 | neutral | None | None | None | None | N |
| D/L | 0.3218 | likely_benign | 0.384 | ambiguous | 0.266 | Stabilizing | None | N | 0.475 | neutral | None | None | None | None | N |
| D/M | 0.4996 | ambiguous | 0.5963 | pathogenic | 0.499 | Stabilizing | 0.214 | N | 0.637 | neutral | None | None | None | None | N |
| D/N | 0.0764 | likely_benign | 0.0867 | benign | -0.502 | Destabilizing | 0.248 | N | 0.501 | neutral | N | 0.452345102 | None | None | N |
| D/P | 0.4341 | ambiguous | 0.4843 | ambiguous | 0.037 | Stabilizing | None | N | 0.409 | neutral | None | None | None | None | N |
| D/Q | 0.1917 | likely_benign | 0.2296 | benign | -0.387 | Destabilizing | 0.001 | N | 0.287 | neutral | None | None | None | None | N |
| D/R | 0.233 | likely_benign | 0.2549 | benign | 0.254 | Stabilizing | 0.038 | N | 0.661 | neutral | None | None | None | None | N |
| D/S | 0.0836 | likely_benign | 0.0944 | benign | -0.665 | Destabilizing | 0.016 | N | 0.466 | neutral | None | None | None | None | N |
| D/T | 0.1667 | likely_benign | 0.2107 | benign | -0.42 | Destabilizing | 0.001 | N | 0.356 | neutral | None | None | None | None | N |
| D/V | 0.2163 | likely_benign | 0.266 | benign | 0.037 | Stabilizing | 0.029 | N | 0.607 | neutral | N | 0.475355248 | None | None | N |
| D/W | 0.749 | likely_pathogenic | 0.7805 | pathogenic | 0.222 | Stabilizing | 0.864 | D | 0.619 | neutral | None | None | None | None | N |
| D/Y | 0.1891 | likely_benign | 0.214 | benign | 0.233 | Stabilizing | 0.344 | N | 0.671 | neutral | N | 0.463735532 | 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.