Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7324 | 22195;22196;22197 | chr2:178722929;178722928;178722927 | chr2:179587656;179587655;179587654 |
| N2AB | 7007 | 21244;21245;21246 | chr2:178722929;178722928;178722927 | chr2:179587656;179587655;179587654 |
| N2A | 6080 | 18463;18464;18465 | chr2:178722929;178722928;178722927 | chr2:179587656;179587655;179587654 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.999 | N | 0.425 | 0.336 | 0.54038131941 | gnomAD-4.0.0 | 6.85872E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.0087E-07 | 0 | 0 |
| Y/D | rs765632650  |
0.335 | 0.984 | N | 0.411 | 0.323 | 0.677748964116 | gnomAD-2.1.1 | 1.45E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.17E-05 | 0 |
| Y/D | rs765632650 |
0.335 | 0.984 | N | 0.411 | 0.323 | 0.677748964116 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| Y/D | rs765632650 |
0.335 | 0.984 | N | 0.411 | 0.323 | 0.677748964116 | gnomAD-4.0.0 | 2.11223E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.80169E-05 | 0 | 1.60658E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.529 | ambiguous | 0.6941 | pathogenic | -1.182 | Destabilizing | 0.828 | D | 0.405 | neutral | None | None | None | None | N |
| Y/C | 0.1942 | likely_benign | 0.2816 | benign | -0.404 | Destabilizing | 0.999 | D | 0.425 | neutral | N | 0.513529634 | None | None | N |
| Y/D | 0.461 | ambiguous | 0.6613 | pathogenic | 0.298 | Stabilizing | 0.984 | D | 0.411 | neutral | N | 0.497040029 | None | None | N |
| Y/E | 0.6748 | likely_pathogenic | 0.8199 | pathogenic | 0.333 | Stabilizing | 0.959 | D | 0.431 | neutral | None | None | None | None | N |
| Y/F | 0.1008 | likely_benign | 0.1075 | benign | -0.39 | Destabilizing | 0.007 | N | 0.215 | neutral | N | 0.469181424 | None | None | N |
| Y/G | 0.5689 | likely_pathogenic | 0.7486 | pathogenic | -1.418 | Destabilizing | 0.921 | D | 0.432 | neutral | None | None | None | None | N |
| Y/H | 0.2183 | likely_benign | 0.2971 | benign | -0.001 | Destabilizing | 0.991 | D | 0.439 | neutral | N | 0.470989578 | None | None | N |
| Y/I | 0.4481 | ambiguous | 0.5421 | ambiguous | -0.525 | Destabilizing | 0.759 | D | 0.411 | neutral | None | None | None | None | N |
| Y/K | 0.6491 | likely_pathogenic | 0.7812 | pathogenic | -0.431 | Destabilizing | 0.036 | N | 0.287 | neutral | None | None | None | None | N |
| Y/L | 0.5019 | ambiguous | 0.6138 | pathogenic | -0.525 | Destabilizing | 0.311 | N | 0.397 | neutral | None | None | None | None | N |
| Y/M | 0.6782 | likely_pathogenic | 0.7749 | pathogenic | -0.482 | Destabilizing | 0.993 | D | 0.407 | neutral | None | None | None | None | N |
| Y/N | 0.2941 | likely_benign | 0.4416 | ambiguous | -0.845 | Destabilizing | 0.984 | D | 0.415 | neutral | N | 0.475491321 | None | None | N |
| Y/P | 0.9797 | likely_pathogenic | 0.9892 | pathogenic | -0.73 | Destabilizing | 0.994 | D | 0.451 | neutral | None | None | None | None | N |
| Y/Q | 0.5436 | ambiguous | 0.7115 | pathogenic | -0.721 | Destabilizing | 0.961 | D | 0.427 | neutral | None | None | None | None | N |
| Y/R | 0.4006 | ambiguous | 0.5444 | ambiguous | -0.134 | Destabilizing | 0.944 | D | 0.41 | neutral | None | None | None | None | N |
| Y/S | 0.2282 | likely_benign | 0.3588 | ambiguous | -1.263 | Destabilizing | 0.19 | N | 0.311 | neutral | N | 0.431527113 | None | None | N |
| Y/T | 0.423 | ambiguous | 0.5721 | pathogenic | -1.136 | Destabilizing | 0.921 | D | 0.416 | neutral | None | None | None | None | N |
| Y/V | 0.3208 | likely_benign | 0.4016 | ambiguous | -0.73 | Destabilizing | 0.959 | D | 0.421 | neutral | None | None | None | None | N |
| Y/W | 0.479 | ambiguous | 0.5478 | ambiguous | -0.302 | Destabilizing | 0.999 | D | 0.446 | 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.