Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7432 | 22519;22520;22521 | chr2:178722493;178722492;178722491 | chr2:179587220;179587219;179587218 |
| N2AB | 7115 | 21568;21569;21570 | chr2:178722493;178722492;178722491 | chr2:179587220;179587219;179587218 |
| N2A | 6188 | 18787;18788;18789 | chr2:178722493;178722492;178722491 | chr2:179587220;179587219;179587218 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs2078569479  |
None | 0.002 | N | 0.207 | 0.316 | 0.809727008303 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs2078569479 |
None | 0.002 | N | 0.207 | 0.316 | 0.809727008303 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47042E-05 | 0 | 0 |
| V/M | rs764881933 |
-0.288 | 0.863 | N | 0.271 | 0.37 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| V/M | rs764881933 |
-0.288 | 0.863 | N | 0.271 | 0.37 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/M | rs764881933 |
-0.288 | 0.863 | N | 0.271 | 0.37 | None | gnomAD-4.0.0 | 7.00438E-05 | None | None | None | None | I | None | 1.33568E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.3255E-05 | 0 | 3.20338E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1067 | likely_benign | 0.1121 | benign | -0.875 | Destabilizing | 0.002 | N | 0.079 | neutral | N | 0.504398437 | None | None | I |
| V/C | 0.8863 | likely_pathogenic | 0.8737 | pathogenic | -0.645 | Destabilizing | 0.995 | D | 0.269 | neutral | None | None | None | None | I |
| V/D | 0.5418 | ambiguous | 0.5381 | ambiguous | -0.472 | Destabilizing | 0.007 | N | 0.247 | neutral | None | None | None | None | I |
| V/E | 0.3049 | likely_benign | 0.308 | benign | -0.57 | Destabilizing | 0.01 | N | 0.123 | neutral | N | 0.425510791 | None | None | I |
| V/F | 0.264 | likely_benign | 0.2578 | benign | -0.98 | Destabilizing | 0.893 | D | 0.295 | neutral | None | None | None | None | I |
| V/G | 0.3169 | likely_benign | 0.3301 | benign | -1.06 | Destabilizing | 0.002 | N | 0.207 | neutral | N | 0.497228397 | None | None | I |
| V/H | 0.7261 | likely_pathogenic | 0.7223 | pathogenic | -0.57 | Destabilizing | 0.981 | D | 0.329 | neutral | None | None | None | None | I |
| V/I | 0.0752 | likely_benign | 0.0756 | benign | -0.525 | Destabilizing | 0.007 | N | 0.195 | neutral | None | None | None | None | I |
| V/K | 0.4397 | ambiguous | 0.4579 | ambiguous | -0.604 | Destabilizing | 0.704 | D | 0.382 | neutral | None | None | None | None | I |
| V/L | 0.228 | likely_benign | 0.2328 | benign | -0.525 | Destabilizing | 0.27 | N | 0.305 | neutral | N | 0.461858381 | None | None | I |
| V/M | 0.1518 | likely_benign | 0.1662 | benign | -0.353 | Destabilizing | 0.863 | D | 0.271 | neutral | N | 0.510559712 | None | None | I |
| V/N | 0.427 | ambiguous | 0.4068 | ambiguous | -0.294 | Destabilizing | 0.704 | D | 0.393 | neutral | None | None | None | None | I |
| V/P | 0.531 | ambiguous | 0.4852 | ambiguous | -0.606 | Destabilizing | 0.944 | D | 0.381 | neutral | None | None | None | None | I |
| V/Q | 0.4014 | ambiguous | 0.4186 | ambiguous | -0.574 | Destabilizing | 0.893 | D | 0.379 | neutral | None | None | None | None | I |
| V/R | 0.3934 | ambiguous | 0.409 | ambiguous | -0.033 | Destabilizing | 0.893 | D | 0.397 | neutral | None | None | None | None | I |
| V/S | 0.2313 | likely_benign | 0.2362 | benign | -0.74 | Destabilizing | 0.329 | N | 0.351 | neutral | None | None | None | None | I |
| V/T | 0.1505 | likely_benign | 0.147 | benign | -0.737 | Destabilizing | 0.704 | D | 0.221 | neutral | None | None | None | None | I |
| V/W | 0.8736 | likely_pathogenic | 0.8742 | pathogenic | -1.037 | Destabilizing | 0.995 | D | 0.39 | neutral | None | None | None | None | I |
| V/Y | 0.7171 | likely_pathogenic | 0.715 | pathogenic | -0.747 | Destabilizing | 0.981 | D | 0.279 | 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.