Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15155 | 45688;45689;45690 | chr2:178621255;178621254;178621253 | chr2:179485982;179485981;179485980 |
| N2AB | 13514 | 40765;40766;40767 | chr2:178621255;178621254;178621253 | chr2:179485982;179485981;179485980 |
| N2A | 12587 | 37984;37985;37986 | chr2:178621255;178621254;178621253 | chr2:179485982;179485981;179485980 |
| N2B | 6090 | 18493;18494;18495 | chr2:178621255;178621254;178621253 | chr2:179485982;179485981;179485980 |
| Novex-1 | 6215 | 18868;18869;18870 | chr2:178621255;178621254;178621253 | chr2:179485982;179485981;179485980 |
| Novex-2 | 6282 | 19069;19070;19071 | chr2:178621255;178621254;178621253 | chr2:179485982;179485981;179485980 |
| 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 | rs1264511051  |
None | 0.801 | N | 0.389 | 0.093 | 0.163833314356 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs1264511051 |
None | 0.801 | N | 0.389 | 0.093 | 0.163833314356 | gnomAD-4.0.0 | 1.31692E-05 | None | None | None | None | N | None | 4.83068E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | None | None | 0.002 | N | 0.161 | 0.211 | 0.0920862733494 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| D/N | None | None | 0.012 | N | 0.191 | 0.226 | 0.128392430309 | gnomAD-4.0.0 | 6.84766E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15993E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3244 | likely_benign | 0.3098 | benign | 0.065 | Stabilizing | 0.454 | N | 0.432 | neutral | N | 0.453135232 | None | None | N |
| D/C | 0.8527 | likely_pathogenic | 0.7701 | pathogenic | 0.097 | Stabilizing | 0.998 | D | 0.53 | neutral | None | None | None | None | N |
| D/E | 0.2538 | likely_benign | 0.2401 | benign | -0.215 | Destabilizing | 0.801 | D | 0.389 | neutral | N | 0.454019514 | None | None | N |
| D/F | 0.8105 | likely_pathogenic | 0.7556 | pathogenic | -0.064 | Destabilizing | 0.991 | D | 0.505 | neutral | None | None | None | None | N |
| D/G | 0.1522 | likely_benign | 0.1424 | benign | -0.065 | Destabilizing | 0.002 | N | 0.161 | neutral | N | 0.386281566 | None | None | N |
| D/H | 0.587 | likely_pathogenic | 0.501 | ambiguous | 0.35 | Stabilizing | 0.966 | D | 0.427 | neutral | N | 0.467209873 | None | None | N |
| D/I | 0.7446 | likely_pathogenic | 0.7124 | pathogenic | 0.339 | Stabilizing | 0.991 | D | 0.515 | neutral | None | None | None | None | N |
| D/K | 0.6242 | likely_pathogenic | 0.525 | ambiguous | 0.54 | Stabilizing | 0.842 | D | 0.414 | neutral | None | None | None | None | N |
| D/L | 0.6717 | likely_pathogenic | 0.609 | pathogenic | 0.339 | Stabilizing | 0.974 | D | 0.496 | neutral | None | None | None | None | N |
| D/M | 0.8388 | likely_pathogenic | 0.789 | pathogenic | 0.241 | Stabilizing | 0.998 | D | 0.496 | neutral | None | None | None | None | N |
| D/N | 0.1368 | likely_benign | 0.1437 | benign | 0.383 | Stabilizing | 0.012 | N | 0.191 | neutral | N | 0.390713421 | None | None | N |
| D/P | 0.9643 | likely_pathogenic | 0.9377 | pathogenic | 0.269 | Stabilizing | 0.991 | D | 0.449 | neutral | None | None | None | None | N |
| D/Q | 0.5728 | likely_pathogenic | 0.4762 | ambiguous | 0.374 | Stabilizing | 0.974 | D | 0.433 | neutral | None | None | None | None | N |
| D/R | 0.6641 | likely_pathogenic | 0.5448 | ambiguous | 0.69 | Stabilizing | 0.949 | D | 0.491 | neutral | None | None | None | None | N |
| D/S | 0.2415 | likely_benign | 0.2279 | benign | 0.273 | Stabilizing | 0.728 | D | 0.365 | neutral | None | None | None | None | N |
| D/T | 0.6047 | likely_pathogenic | 0.5798 | pathogenic | 0.372 | Stabilizing | 0.842 | D | 0.426 | neutral | None | None | None | None | N |
| D/V | 0.5591 | ambiguous | 0.5256 | ambiguous | 0.269 | Stabilizing | 0.966 | D | 0.496 | neutral | N | 0.48544794 | None | None | N |
| D/W | 0.9572 | likely_pathogenic | 0.919 | pathogenic | -0.034 | Destabilizing | 0.998 | D | 0.561 | neutral | None | None | None | None | N |
| D/Y | 0.4501 | ambiguous | 0.384 | ambiguous | 0.165 | Stabilizing | 0.989 | D | 0.503 | neutral | D | 0.550932801 | 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.