Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26793 | 80602;80603;80604 | chr2:178565755;178565754;178565753 | chr2:179430482;179430481;179430480 |
| N2AB | 25152 | 75679;75680;75681 | chr2:178565755;178565754;178565753 | chr2:179430482;179430481;179430480 |
| N2A | 24225 | 72898;72899;72900 | chr2:178565755;178565754;178565753 | chr2:179430482;179430481;179430480 |
| N2B | 17728 | 53407;53408;53409 | chr2:178565755;178565754;178565753 | chr2:179430482;179430481;179430480 |
| Novex-1 | 17853 | 53782;53783;53784 | chr2:178565755;178565754;178565753 | chr2:179430482;179430481;179430480 |
| Novex-2 | 17920 | 53983;53984;53985 | chr2:178565755;178565754;178565753 | chr2:179430482;179430481;179430480 |
| 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/A | rs960039859  |
-0.501 | 0.309 | N | 0.329 | 0.08 | 0.149567049428 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/A | rs960039859 |
-0.501 | 0.309 | N | 0.329 | 0.08 | 0.149567049428 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/A | rs960039859 |
-0.501 | 0.309 | N | 0.329 | 0.08 | 0.149567049428 | gnomAD-4.0.0 | 1.9727E-05 | None | None | None | None | N | None | 7.24358E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2469 | likely_benign | 0.2143 | benign | -0.412 | Destabilizing | 0.309 | N | 0.329 | neutral | N | 0.440503595 | None | None | N |
| S/C | 0.2256 | likely_benign | 0.2202 | benign | -0.602 | Destabilizing | 0.994 | D | 0.441 | neutral | N | 0.489503174 | None | None | N |
| S/D | 0.6371 | likely_pathogenic | 0.6155 | pathogenic | -1.464 | Destabilizing | 0.009 | N | 0.159 | neutral | None | None | None | None | N |
| S/E | 0.8742 | likely_pathogenic | 0.8633 | pathogenic | -1.491 | Destabilizing | 0.59 | D | 0.348 | neutral | None | None | None | None | N |
| S/F | 0.5966 | likely_pathogenic | 0.5599 | ambiguous | -0.975 | Destabilizing | 0.007 | N | 0.294 | neutral | N | 0.497666386 | None | None | N |
| S/G | 0.1384 | likely_benign | 0.1331 | benign | -0.582 | Destabilizing | 0.543 | D | 0.349 | neutral | None | None | None | None | N |
| S/H | 0.6523 | likely_pathogenic | 0.6616 | pathogenic | -1.186 | Destabilizing | 0.984 | D | 0.451 | neutral | None | None | None | None | N |
| S/I | 0.6845 | likely_pathogenic | 0.6326 | pathogenic | -0.076 | Destabilizing | 0.59 | D | 0.437 | neutral | None | None | None | None | N |
| S/K | 0.876 | likely_pathogenic | 0.8814 | pathogenic | -0.683 | Destabilizing | 0.742 | D | 0.384 | neutral | None | None | None | None | N |
| S/L | 0.2325 | likely_benign | 0.1995 | benign | -0.076 | Destabilizing | 0.59 | D | 0.409 | neutral | None | None | None | None | N |
| S/M | 0.3982 | ambiguous | 0.3612 | ambiguous | 0.356 | Stabilizing | 0.953 | D | 0.455 | neutral | None | None | None | None | N |
| S/N | 0.2711 | likely_benign | 0.2453 | benign | -0.867 | Destabilizing | 0.59 | D | 0.407 | neutral | None | None | None | None | N |
| S/P | 0.9558 | likely_pathogenic | 0.9488 | pathogenic | -0.159 | Destabilizing | 0.939 | D | 0.459 | neutral | N | 0.477728795 | None | None | N |
| S/Q | 0.8024 | likely_pathogenic | 0.8034 | pathogenic | -1.217 | Destabilizing | 0.953 | D | 0.447 | neutral | None | None | None | None | N |
| S/R | 0.8323 | likely_pathogenic | 0.8341 | pathogenic | -0.389 | Destabilizing | 0.91 | D | 0.471 | neutral | None | None | None | None | N |
| S/T | 0.0735 | likely_benign | 0.0723 | benign | -0.709 | Destabilizing | 0.004 | N | 0.067 | neutral | N | 0.359402364 | None | None | N |
| S/V | 0.6342 | likely_pathogenic | 0.5823 | pathogenic | -0.159 | Destabilizing | 0.59 | D | 0.419 | neutral | None | None | None | None | N |
| S/W | 0.7269 | likely_pathogenic | 0.7228 | pathogenic | -1.036 | Destabilizing | 0.996 | D | 0.487 | neutral | None | None | None | None | N |
| S/Y | 0.4924 | ambiguous | 0.4709 | ambiguous | -0.675 | Destabilizing | 0.792 | D | 0.469 | neutral | N | 0.494279364 | 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.