Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17167 | 51724;51725;51726 | chr2:178609924;178609923;178609922 | chr2:179474651;179474650;179474649 |
| N2AB | 15526 | 46801;46802;46803 | chr2:178609924;178609923;178609922 | chr2:179474651;179474650;179474649 |
| N2A | 14599 | 44020;44021;44022 | chr2:178609924;178609923;178609922 | chr2:179474651;179474650;179474649 |
| N2B | 8102 | 24529;24530;24531 | chr2:178609924;178609923;178609922 | chr2:179474651;179474650;179474649 |
| Novex-1 | 8227 | 24904;24905;24906 | chr2:178609924;178609923;178609922 | chr2:179474651;179474650;179474649 |
| Novex-2 | 8294 | 25105;25106;25107 | chr2:178609924;178609923;178609922 | chr2:179474651;179474650;179474649 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs749322226  |
0.229 | 1.0 | N | 0.823 | 0.458 | 0.541239005379 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.65412E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs749322226 |
0.229 | 1.0 | N | 0.823 | 0.458 | 0.541239005379 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs749322226 |
0.229 | 1.0 | N | 0.823 | 0.458 | 0.541239005379 | gnomAD-4.0.0 | 6.82039E-06 | None | None | None | None | N | None | 1.4702E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2734 | likely_benign | 0.2132 | benign | -0.848 | Destabilizing | 0.999 | D | 0.577 | neutral | N | 0.464705819 | None | None | N |
| T/C | 0.7318 | likely_pathogenic | 0.6321 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| T/D | 0.8849 | likely_pathogenic | 0.8364 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/E | 0.7722 | likely_pathogenic | 0.6913 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| T/F | 0.6167 | likely_pathogenic | 0.5026 | ambiguous | -0.451 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| T/G | 0.6267 | likely_pathogenic | 0.531 | ambiguous | -1.245 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/H | 0.59 | likely_pathogenic | 0.4984 | ambiguous | -1.574 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| T/I | 0.5343 | ambiguous | 0.4295 | ambiguous | 0.184 | Stabilizing | 1.0 | D | 0.823 | deleterious | N | 0.475309258 | None | None | N |
| T/K | 0.597 | likely_pathogenic | 0.4596 | ambiguous | -0.71 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.475941533 | None | None | N |
| T/L | 0.3824 | ambiguous | 0.272 | benign | 0.184 | Stabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/M | 0.2392 | likely_benign | 0.1804 | benign | 0.147 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| T/N | 0.4612 | ambiguous | 0.3967 | ambiguous | -1.264 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| T/P | 0.9458 | likely_pathogenic | 0.909 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.514809451 | None | None | N |
| T/Q | 0.5605 | ambiguous | 0.4464 | ambiguous | -1.016 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| T/R | 0.5231 | ambiguous | 0.3961 | ambiguous | -0.945 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.475690817 | None | None | N |
| T/S | 0.2322 | likely_benign | 0.1971 | benign | -1.366 | Destabilizing | 0.999 | D | 0.556 | neutral | N | 0.455099327 | None | None | N |
| T/V | 0.3878 | ambiguous | 0.3065 | benign | -0.128 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| T/W | 0.8932 | likely_pathogenic | 0.8384 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| T/Y | 0.6903 | likely_pathogenic | 0.5925 | pathogenic | -0.356 | Destabilizing | 1.0 | D | 0.898 | deleterious | 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.