Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7178 | 21757;21758;21759 | chr2:178723568;178723567;178723566 | chr2:179588295;179588294;179588293 |
| N2AB | 6861 | 20806;20807;20808 | chr2:178723568;178723567;178723566 | chr2:179588295;179588294;179588293 |
| N2A | 5934 | 18025;18026;18027 | chr2:178723568;178723567;178723566 | chr2:179588295;179588294;179588293 |
| 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/L | rs753557450  |
-0.2 | 0.002 | N | 0.09 | 0.2 | 0.385249989106 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs753557450 |
-0.2 | 0.002 | N | 0.09 | 0.2 | 0.385249989106 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 2.28812E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs753557450 |
-0.528 | 0.016 | D | 0.193 | 0.166 | 0.440182696023 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs753557450 |
-0.528 | 0.016 | D | 0.193 | 0.166 | 0.440182696023 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs753557450 |
-0.528 | 0.016 | D | 0.193 | 0.166 | 0.440182696023 | gnomAD-4.0.0 | 3.84532E-06 | None | None | None | None | N | None | 3.38318E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39426E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1146 | likely_benign | 0.1369 | benign | -0.427 | Destabilizing | 0.201 | N | 0.271 | neutral | N | 0.460983228 | None | None | N |
| V/C | 0.6203 | likely_pathogenic | 0.6816 | pathogenic | -0.732 | Destabilizing | 0.992 | D | 0.347 | neutral | None | None | None | None | N |
| V/D | 0.177 | likely_benign | 0.2081 | benign | -0.243 | Destabilizing | 0.85 | D | 0.397 | neutral | None | None | None | None | N |
| V/E | 0.125 | likely_benign | 0.1347 | benign | -0.338 | Destabilizing | 0.549 | D | 0.395 | neutral | N | 0.468890635 | None | None | N |
| V/F | 0.1094 | likely_benign | 0.1253 | benign | -0.573 | Destabilizing | 0.85 | D | 0.368 | neutral | None | None | None | None | N |
| V/G | 0.1108 | likely_benign | 0.1345 | benign | -0.562 | Destabilizing | 0.549 | D | 0.409 | neutral | N | 0.497656104 | None | None | N |
| V/H | 0.3156 | likely_benign | 0.3485 | ambiguous | -0.079 | Destabilizing | 0.992 | D | 0.384 | neutral | None | None | None | None | N |
| V/I | 0.083 | likely_benign | 0.0879 | benign | -0.214 | Destabilizing | 0.25 | N | 0.336 | neutral | None | None | None | None | N |
| V/K | 0.155 | likely_benign | 0.1679 | benign | -0.476 | Destabilizing | 0.021 | N | 0.243 | neutral | None | None | None | None | N |
| V/L | 0.1038 | likely_benign | 0.1198 | benign | -0.214 | Destabilizing | 0.002 | N | 0.09 | neutral | N | 0.466141119 | None | None | N |
| V/M | 0.1109 | likely_benign | 0.1241 | benign | -0.46 | Destabilizing | 0.016 | N | 0.193 | neutral | D | 0.5307686 | None | None | N |
| V/N | 0.1599 | likely_benign | 0.1889 | benign | -0.278 | Destabilizing | 0.85 | D | 0.399 | neutral | None | None | None | None | N |
| V/P | 0.2676 | likely_benign | 0.3245 | benign | -0.251 | Destabilizing | 0.92 | D | 0.377 | neutral | None | None | None | None | N |
| V/Q | 0.1442 | likely_benign | 0.1543 | benign | -0.472 | Destabilizing | 0.85 | D | 0.381 | neutral | None | None | None | None | N |
| V/R | 0.1327 | likely_benign | 0.1407 | benign | None | Stabilizing | 0.739 | D | 0.402 | neutral | None | None | None | None | N |
| V/S | 0.125 | likely_benign | 0.1444 | benign | -0.64 | Destabilizing | 0.447 | N | 0.377 | neutral | None | None | None | None | N |
| V/T | 0.1346 | likely_benign | 0.1482 | benign | -0.631 | Destabilizing | 0.021 | N | 0.139 | neutral | None | None | None | None | N |
| V/W | 0.5308 | ambiguous | 0.5896 | pathogenic | -0.662 | Destabilizing | 0.992 | D | 0.418 | neutral | None | None | None | None | N |
| V/Y | 0.3485 | ambiguous | 0.3908 | ambiguous | -0.372 | Destabilizing | 0.92 | D | 0.372 | 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.