Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23760 | 71503;71504;71505 | chr2:178574854;178574853;178574852 | chr2:179439581;179439580;179439579 |
| N2AB | 22119 | 66580;66581;66582 | chr2:178574854;178574853;178574852 | chr2:179439581;179439580;179439579 |
| N2A | 21192 | 63799;63800;63801 | chr2:178574854;178574853;178574852 | chr2:179439581;179439580;179439579 |
| N2B | 14695 | 44308;44309;44310 | chr2:178574854;178574853;178574852 | chr2:179439581;179439580;179439579 |
| Novex-1 | 14820 | 44683;44684;44685 | chr2:178574854;178574853;178574852 | chr2:179439581;179439580;179439579 |
| Novex-2 | 14887 | 44884;44885;44886 | chr2:178574854;178574853;178574852 | chr2:179439581;179439580;179439579 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | rs765988593  |
-0.108 | 0.007 | N | 0.246 | 0.274 | 0.327952845175 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| S/I | rs765988593 |
-0.108 | 0.007 | N | 0.246 | 0.274 | 0.327952845175 | gnomAD-4.0.0 | 1.59278E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85981E-06 | 0 | 0 |
| S/R | rs2154171828 |
-0.09 | 0.884 | N | 0.358 | 0.349 | 0.255777322467 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 9.3E-05 | 9E-06 | 0 |
| S/R | rs2154171828 |
-0.09 | 0.884 | N | 0.358 | 0.349 | 0.255777322467 | gnomAD-4.0.0 | 2.73797E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 5.63126E-05 | 0 | 0 | 0 | 1.65782E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1979 | likely_benign | 0.1854 | benign | -0.63 | Destabilizing | 0.543 | D | 0.385 | neutral | None | None | None | None | I |
| S/C | 0.2085 | likely_benign | 0.2189 | benign | -0.459 | Destabilizing | 0.994 | D | 0.369 | neutral | N | 0.521252535 | None | None | I |
| S/D | 0.8922 | likely_pathogenic | 0.9038 | pathogenic | -0.302 | Destabilizing | 0.59 | D | 0.26 | neutral | None | None | None | None | I |
| S/E | 0.9405 | likely_pathogenic | 0.9468 | pathogenic | -0.348 | Destabilizing | 0.742 | D | 0.257 | neutral | None | None | None | None | I |
| S/F | 0.708 | likely_pathogenic | 0.7009 | pathogenic | -0.993 | Destabilizing | 0.91 | D | 0.412 | neutral | None | None | None | None | I |
| S/G | 0.1949 | likely_benign | 0.2063 | benign | -0.822 | Destabilizing | 0.309 | N | 0.289 | neutral | N | 0.517577512 | None | None | I |
| S/H | 0.7579 | likely_pathogenic | 0.7967 | pathogenic | -1.362 | Destabilizing | 0.953 | D | 0.372 | neutral | None | None | None | None | I |
| S/I | 0.4538 | ambiguous | 0.4801 | ambiguous | -0.239 | Destabilizing | 0.007 | N | 0.246 | neutral | N | 0.471631791 | None | None | I |
| S/K | 0.9725 | likely_pathogenic | 0.9755 | pathogenic | -0.729 | Destabilizing | 0.742 | D | 0.264 | neutral | None | None | None | None | I |
| S/L | 0.2731 | likely_benign | 0.251 | benign | -0.239 | Destabilizing | 0.17 | N | 0.347 | neutral | None | None | None | None | I |
| S/M | 0.3799 | ambiguous | 0.3807 | ambiguous | 0.14 | Stabilizing | 0.91 | D | 0.369 | neutral | None | None | None | None | I |
| S/N | 0.2329 | likely_benign | 0.272 | benign | -0.6 | Destabilizing | 0.001 | N | 0.074 | neutral | N | 0.443618471 | None | None | I |
| S/P | 0.9387 | likely_pathogenic | 0.9493 | pathogenic | -0.337 | Destabilizing | 0.984 | D | 0.391 | neutral | None | None | None | None | I |
| S/Q | 0.8524 | likely_pathogenic | 0.8608 | pathogenic | -0.848 | Destabilizing | 0.953 | D | 0.385 | neutral | None | None | None | None | I |
| S/R | 0.9602 | likely_pathogenic | 0.9646 | pathogenic | -0.525 | Destabilizing | 0.884 | D | 0.358 | neutral | N | 0.477653687 | None | None | I |
| S/T | 0.1149 | likely_benign | 0.1214 | benign | -0.645 | Destabilizing | 0.472 | N | 0.329 | neutral | N | 0.428472873 | None | None | I |
| S/V | 0.4754 | ambiguous | 0.4841 | ambiguous | -0.337 | Destabilizing | 0.331 | N | 0.345 | neutral | None | None | None | None | I |
| S/W | 0.8215 | likely_pathogenic | 0.831 | pathogenic | -0.955 | Destabilizing | 0.996 | D | 0.566 | neutral | None | None | None | None | I |
| S/Y | 0.6091 | likely_pathogenic | 0.6249 | pathogenic | -0.701 | Destabilizing | 0.953 | D | 0.405 | 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.