Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17153 | 51682;51683;51684 | chr2:178609966;178609965;178609964 | chr2:179474693;179474692;179474691 |
| N2AB | 15512 | 46759;46760;46761 | chr2:178609966;178609965;178609964 | chr2:179474693;179474692;179474691 |
| N2A | 14585 | 43978;43979;43980 | chr2:178609966;178609965;178609964 | chr2:179474693;179474692;179474691 |
| N2B | 8088 | 24487;24488;24489 | chr2:178609966;178609965;178609964 | chr2:179474693;179474692;179474691 |
| Novex-1 | 8213 | 24862;24863;24864 | chr2:178609966;178609965;178609964 | chr2:179474693;179474692;179474691 |
| Novex-2 | 8280 | 25063;25064;25065 | chr2:178609966;178609965;178609964 | chr2:179474693;179474692;179474691 |
| 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 | rs151281257  |
-0.184 | 1.0 | N | 0.467 | 0.205 | 0.256793551483 | gnomAD-2.1.1 | 5.38E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.17E-05 | None | 1.31294E-04 | None | 0 | 7.85E-05 | 0 |
| D/E | rs151281257 |
-0.184 | 1.0 | N | 0.467 | 0.205 | 0.256793551483 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.80031E-04 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| D/E | rs151281257 |
-0.184 | 1.0 | N | 0.467 | 0.205 | 0.256793551483 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| D/E | rs151281257 |
-0.184 | 1.0 | N | 0.467 | 0.205 | 0.256793551483 | gnomAD-4.0.0 | 3.65975E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.01324E-04 | None | 0 | 0 | 2.96872E-05 | 1.42986E-04 | 3.20492E-05 |
| D/G | None | None | 1.0 | N | 0.778 | 0.508 | 0.27855597813 | gnomAD-4.0.0 | 1.5951E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86421E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4141 | ambiguous | 0.2937 | benign | -0.265 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.478635121 | None | None | N |
| D/C | 0.9045 | likely_pathogenic | 0.8286 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| D/E | 0.356 | ambiguous | 0.2793 | benign | -0.394 | Destabilizing | 1.0 | D | 0.467 | neutral | N | 0.463108309 | None | None | N |
| D/F | 0.8581 | likely_pathogenic | 0.779 | pathogenic | -0.172 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| D/G | 0.4541 | ambiguous | 0.307 | benign | -0.459 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.440788809 | None | None | N |
| D/H | 0.7504 | likely_pathogenic | 0.609 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.797 | deleterious | D | 0.52223397 | None | None | N |
| D/I | 0.832 | likely_pathogenic | 0.7171 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| D/K | 0.8574 | likely_pathogenic | 0.7546 | pathogenic | 0.169 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/L | 0.726 | likely_pathogenic | 0.6184 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/M | 0.8635 | likely_pathogenic | 0.7836 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/N | 0.2965 | likely_benign | 0.1906 | benign | -0.129 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.415791577 | None | None | N |
| D/P | 0.982 | likely_pathogenic | 0.9633 | pathogenic | 0.064 | Stabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/Q | 0.7392 | likely_pathogenic | 0.6261 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| D/R | 0.8616 | likely_pathogenic | 0.7663 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| D/S | 0.3986 | ambiguous | 0.2728 | benign | -0.239 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| D/T | 0.6816 | likely_pathogenic | 0.5438 | ambiguous | -0.092 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| D/V | 0.6667 | likely_pathogenic | 0.5247 | ambiguous | 0.064 | Stabilizing | 1.0 | D | 0.884 | deleterious | N | 0.515673357 | None | None | N |
| D/W | 0.9759 | likely_pathogenic | 0.9609 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/Y | 0.5949 | likely_pathogenic | 0.4651 | ambiguous | 0.059 | Stabilizing | 1.0 | D | 0.853 | deleterious | N | 0.497679474 | 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.