Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1753 | 5482;5483;5484 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
| N2AB | 1753 | 5482;5483;5484 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
| N2A | 1753 | 5482;5483;5484 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
| N2B | 1707 | 5344;5345;5346 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
| Novex-1 | 1707 | 5344;5345;5346 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
| Novex-2 | 1707 | 5344;5345;5346 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
| Novex-3 | 1753 | 5482;5483;5484 | chr2:178776607;178776606;178776605 | chr2:179641334;179641333;179641332 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs747692832  |
None | 0.309 | N | 0.407 | 0.259 | 0.44318313171 | gnomAD-4.0.0 | 3.0008E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.15E-05 | 0 | 3.66327E-05 |
| M/V | None | None | 0.309 | N | 0.405 | 0.298 | 0.400033932507 | gnomAD-4.0.0 | 4.77218E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71311E-06 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.8843 | likely_pathogenic | 0.8935 | pathogenic | -2.312 | Highly Destabilizing | 0.543 | D | 0.417 | neutral | None | None | None | None | I |
| M/C | 0.9479 | likely_pathogenic | 0.9477 | pathogenic | -1.528 | Destabilizing | 0.996 | D | 0.52 | neutral | None | None | None | None | I |
| M/D | 0.9913 | likely_pathogenic | 0.9938 | pathogenic | -1.046 | Destabilizing | 0.984 | D | 0.575 | neutral | None | None | None | None | I |
| M/E | 0.9327 | likely_pathogenic | 0.9423 | pathogenic | -0.938 | Destabilizing | 0.953 | D | 0.555 | neutral | None | None | None | None | I |
| M/F | 0.7108 | likely_pathogenic | 0.7294 | pathogenic | -1.034 | Destabilizing | 0.742 | D | 0.453 | neutral | None | None | None | None | I |
| M/G | 0.9572 | likely_pathogenic | 0.964 | pathogenic | -2.686 | Highly Destabilizing | 0.953 | D | 0.553 | neutral | None | None | None | None | I |
| M/H | 0.928 | likely_pathogenic | 0.9437 | pathogenic | -1.621 | Destabilizing | 0.996 | D | 0.57 | neutral | None | None | None | None | I |
| M/I | 0.822 | likely_pathogenic | 0.8075 | pathogenic | -1.286 | Destabilizing | 0.309 | N | 0.407 | neutral | N | 0.46423474 | None | None | I |
| M/K | 0.7921 | likely_pathogenic | 0.8238 | pathogenic | -1.054 | Destabilizing | 0.815 | D | 0.494 | neutral | N | 0.514669587 | None | None | I |
| M/L | 0.3425 | ambiguous | 0.3303 | benign | -1.286 | Destabilizing | 0.003 | N | 0.12 | neutral | N | 0.476349842 | None | None | I |
| M/N | 0.9146 | likely_pathogenic | 0.9324 | pathogenic | -1.082 | Destabilizing | 0.984 | D | 0.569 | neutral | None | None | None | None | I |
| M/P | 0.987 | likely_pathogenic | 0.9876 | pathogenic | -1.606 | Destabilizing | 0.984 | D | 0.566 | neutral | None | None | None | None | I |
| M/Q | 0.702 | likely_pathogenic | 0.7379 | pathogenic | -1.042 | Destabilizing | 0.984 | D | 0.474 | neutral | None | None | None | None | I |
| M/R | 0.8159 | likely_pathogenic | 0.8546 | pathogenic | -0.626 | Destabilizing | 0.939 | D | 0.539 | neutral | N | 0.513841376 | None | None | I |
| M/S | 0.8945 | likely_pathogenic | 0.9086 | pathogenic | -1.729 | Destabilizing | 0.854 | D | 0.483 | neutral | None | None | None | None | I |
| M/T | 0.7936 | likely_pathogenic | 0.811 | pathogenic | -1.501 | Destabilizing | 0.684 | D | 0.465 | neutral | N | 0.422629098 | None | None | I |
| M/V | 0.3498 | ambiguous | 0.3373 | benign | -1.606 | Destabilizing | 0.309 | N | 0.405 | neutral | N | 0.475233667 | None | None | I |
| M/W | 0.9393 | likely_pathogenic | 0.9476 | pathogenic | -0.997 | Destabilizing | 0.996 | D | 0.526 | neutral | None | None | None | None | I |
| M/Y | 0.909 | likely_pathogenic | 0.9235 | pathogenic | -1.086 | Destabilizing | 0.953 | D | 0.529 | neutral | None | None | None | None | I |
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.