Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1031 | 3316;3317;3318 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
| N2AB | 1031 | 3316;3317;3318 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
| N2A | 1031 | 3316;3317;3318 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
| N2B | 985 | 3178;3179;3180 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
| Novex-1 | 985 | 3178;3179;3180 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
| Novex-2 | 985 | 3178;3179;3180 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
| Novex-3 | 1031 | 3316;3317;3318 | chr2:178782815;178782814;178782813 | chr2:179647542;179647541;179647540 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs748303934  |
None | 0.642 | N | 0.408 | 0.199 | 0.466059976078 | gnomAD-4.0.0 | 1.59367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| A/T | rs748303934 |
-0.752 | 0.642 | N | 0.392 | 0.224 | 0.465038187318 | gnomAD-2.1.1 | 7.1E-06 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.79E-06 | 0 |
| A/T | rs748303934 |
-0.752 | 0.642 | N | 0.392 | 0.224 | 0.465038187318 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs748303934 |
-0.752 | 0.642 | N | 0.392 | 0.224 | 0.465038187318 | gnomAD-4.0.0 | 6.41279E-06 | None | None | None | None | N | None | 5.07511E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.7854E-06 | 0 | 0 |
| A/V | None | None | 0.002 | N | 0.111 | 0.27 | 0.562168935514 | gnomAD-4.0.0 | 1.59369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85786E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8269 | likely_pathogenic | 0.8217 | pathogenic | -0.834 | Destabilizing | 0.981 | D | 0.518 | neutral | None | None | None | None | N |
| A/D | 0.6435 | likely_pathogenic | 0.5815 | pathogenic | -0.65 | Destabilizing | 0.863 | D | 0.528 | neutral | N | 0.424913999 | None | None | N |
| A/E | 0.5156 | ambiguous | 0.4443 | ambiguous | -0.688 | Destabilizing | 0.704 | D | 0.493 | neutral | None | None | None | None | N |
| A/F | 0.6454 | likely_pathogenic | 0.5854 | pathogenic | -0.815 | Destabilizing | 0.893 | D | 0.53 | neutral | None | None | None | None | N |
| A/G | 0.3884 | ambiguous | 0.3628 | ambiguous | -0.95 | Destabilizing | 0.642 | D | 0.393 | neutral | N | 0.508279029 | None | None | N |
| A/H | 0.6386 | likely_pathogenic | 0.6001 | pathogenic | -0.993 | Destabilizing | 0.007 | N | 0.455 | neutral | None | None | None | None | N |
| A/I | 0.5737 | likely_pathogenic | 0.5173 | ambiguous | -0.241 | Destabilizing | 0.329 | N | 0.487 | neutral | None | None | None | None | N |
| A/K | 0.7337 | likely_pathogenic | 0.6896 | pathogenic | -0.952 | Destabilizing | 0.704 | D | 0.493 | neutral | None | None | None | None | N |
| A/L | 0.2706 | likely_benign | 0.2436 | benign | -0.241 | Destabilizing | 0.001 | N | 0.232 | neutral | None | None | None | None | N |
| A/M | 0.3888 | ambiguous | 0.3547 | ambiguous | -0.301 | Destabilizing | 0.893 | D | 0.535 | neutral | None | None | None | None | N |
| A/N | 0.5015 | ambiguous | 0.4492 | ambiguous | -0.717 | Destabilizing | 0.893 | D | 0.53 | neutral | None | None | None | None | N |
| A/P | 0.9717 | likely_pathogenic | 0.9665 | pathogenic | -0.357 | Destabilizing | 0.975 | D | 0.511 | neutral | D | 0.536517401 | None | None | N |
| A/Q | 0.4878 | ambiguous | 0.4454 | ambiguous | -0.863 | Destabilizing | 0.893 | D | 0.519 | neutral | None | None | None | None | N |
| A/R | 0.6466 | likely_pathogenic | 0.6009 | pathogenic | -0.62 | Destabilizing | 0.893 | D | 0.509 | neutral | None | None | None | None | N |
| A/S | 0.1495 | likely_benign | 0.1368 | benign | -1.107 | Destabilizing | 0.642 | D | 0.408 | neutral | N | 0.454939649 | None | None | N |
| A/T | 0.1934 | likely_benign | 0.166 | benign | -1.045 | Destabilizing | 0.642 | D | 0.392 | neutral | N | 0.42207077 | None | None | N |
| A/V | 0.2935 | likely_benign | 0.2593 | benign | -0.357 | Destabilizing | 0.002 | N | 0.111 | neutral | N | 0.479640412 | None | None | N |
| A/W | 0.9392 | likely_pathogenic | 0.9239 | pathogenic | -1.119 | Destabilizing | 0.995 | D | 0.566 | neutral | None | None | None | None | N |
| A/Y | 0.7528 | likely_pathogenic | 0.7109 | pathogenic | -0.707 | Destabilizing | 0.893 | D | 0.528 | 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.