Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23258 | 69997;69998;69999 | chr2:178576360;178576359;178576358 | chr2:179441087;179441086;179441085 |
| N2AB | 21617 | 65074;65075;65076 | chr2:178576360;178576359;178576358 | chr2:179441087;179441086;179441085 |
| N2A | 20690 | 62293;62294;62295 | chr2:178576360;178576359;178576358 | chr2:179441087;179441086;179441085 |
| N2B | 14193 | 42802;42803;42804 | chr2:178576360;178576359;178576358 | chr2:179441087;179441086;179441085 |
| Novex-1 | 14318 | 43177;43178;43179 | chr2:178576360;178576359;178576358 | chr2:179441087;179441086;179441085 |
| Novex-2 | 14385 | 43378;43379;43380 | chr2:178576360;178576359;178576358 | chr2:179441087;179441086;179441085 |
| 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/F | None | None | 0.939 | D | 0.623 | 0.365 | 0.568250393081 | gnomAD-4.0.0 | 7.11426E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.16447E-07 | 0 | 0 |
| S/P | None | None | 0.939 | N | 0.615 | 0.367 | 0.231231049324 | gnomAD-4.0.0 | 3.49355E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.39317E-05 | 0 |
| S/Y | None | None | 0.979 | N | 0.614 | 0.403 | 0.597567007519 | gnomAD-4.0.0 | 2.8457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.66579E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.116 | likely_benign | 0.1192 | benign | -0.717 | Destabilizing | 0.309 | N | 0.447 | neutral | N | 0.512112977 | None | None | N |
| S/C | 0.1607 | likely_benign | 0.1631 | benign | -0.7 | Destabilizing | 0.994 | D | 0.597 | neutral | N | 0.483943312 | None | None | N |
| S/D | 0.6482 | likely_pathogenic | 0.668 | pathogenic | -0.846 | Destabilizing | 0.009 | N | 0.281 | neutral | None | None | None | None | N |
| S/E | 0.6776 | likely_pathogenic | 0.6906 | pathogenic | -0.833 | Destabilizing | 0.59 | D | 0.539 | neutral | None | None | None | None | N |
| S/F | 0.2732 | likely_benign | 0.2888 | benign | -0.975 | Destabilizing | 0.939 | D | 0.623 | neutral | D | 0.52223397 | None | None | N |
| S/G | 0.2424 | likely_benign | 0.2393 | benign | -0.962 | Destabilizing | 0.543 | D | 0.501 | neutral | None | None | None | None | N |
| S/H | 0.4987 | ambiguous | 0.5272 | ambiguous | -1.498 | Destabilizing | 0.996 | D | 0.608 | neutral | None | None | None | None | N |
| S/I | 0.2345 | likely_benign | 0.268 | benign | -0.169 | Destabilizing | 0.91 | D | 0.621 | neutral | None | None | None | None | N |
| S/K | 0.8846 | likely_pathogenic | 0.8972 | pathogenic | -0.706 | Destabilizing | 0.742 | D | 0.558 | neutral | None | None | None | None | N |
| S/L | 0.1304 | likely_benign | 0.148 | benign | -0.169 | Destabilizing | 0.59 | D | 0.589 | neutral | None | None | None | None | N |
| S/M | 0.2289 | likely_benign | 0.2415 | benign | 0.115 | Stabilizing | 0.996 | D | 0.605 | neutral | None | None | None | None | N |
| S/N | 0.2681 | likely_benign | 0.3129 | benign | -0.817 | Destabilizing | 0.59 | D | 0.587 | neutral | None | None | None | None | N |
| S/P | 0.9603 | likely_pathogenic | 0.9616 | pathogenic | -0.319 | Destabilizing | 0.939 | D | 0.615 | neutral | N | 0.495046128 | None | None | N |
| S/Q | 0.6653 | likely_pathogenic | 0.6853 | pathogenic | -1.018 | Destabilizing | 0.953 | D | 0.603 | neutral | None | None | None | None | N |
| S/R | 0.8402 | likely_pathogenic | 0.8563 | pathogenic | -0.594 | Destabilizing | 0.953 | D | 0.621 | neutral | None | None | None | None | N |
| S/T | 0.0863 | likely_benign | 0.0887 | benign | -0.755 | Destabilizing | 0.004 | N | 0.287 | neutral | N | 0.412082055 | None | None | N |
| S/V | 0.2107 | likely_benign | 0.2257 | benign | -0.319 | Destabilizing | 0.59 | D | 0.58 | neutral | None | None | None | None | N |
| S/W | 0.5368 | ambiguous | 0.5504 | ambiguous | -0.975 | Destabilizing | 0.996 | D | 0.678 | prob.neutral | None | None | None | None | N |
| S/Y | 0.2758 | likely_benign | 0.2984 | benign | -0.667 | Destabilizing | 0.979 | D | 0.614 | neutral | N | 0.488209273 | 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.