Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35923 | 107992;107993;107994 | chr2:178527221;178527220;178527219 | chr2:179391948;179391947;179391946 |
| N2AB | 34282 | 103069;103070;103071 | chr2:178527221;178527220;178527219 | chr2:179391948;179391947;179391946 |
| N2A | 33355 | 100288;100289;100290 | chr2:178527221;178527220;178527219 | chr2:179391948;179391947;179391946 |
| N2B | 26858 | 80797;80798;80799 | chr2:178527221;178527220;178527219 | chr2:179391948;179391947;179391946 |
| Novex-1 | 26983 | 81172;81173;81174 | chr2:178527221;178527220;178527219 | chr2:179391948;179391947;179391946 |
| Novex-2 | 27050 | 81373;81374;81375 | chr2:178527221;178527220;178527219 | chr2:179391948;179391947;179391946 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs2154129939  |
None | 0.174 | N | 0.487 | 0.248 | 0.384752662912 | gnomAD-4.0.0 | 4.77332E-06 | None | None | None | -0.332(OBSL1) -0.496(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57334E-06 | 0 | 0 |
| E/D | None | None | 0.001 | N | 0.224 | 0.067 | 0.0884992946249 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | -0.412(OBSL1) -0.415(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02371E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3148 | likely_benign | 0.2747 | benign | -0.029 | Destabilizing | 0.174 | N | 0.487 | neutral | N | 0.485420313 | None | -0.332(OBSL1) -0.496(OBSCN) | N |
| E/C | 0.9359 | likely_pathogenic | 0.9201 | pathogenic | -0.171 | Destabilizing | 0.991 | D | 0.573 | neutral | None | None | None | -0.429(OBSL1) -0.594(OBSCN) | N |
| E/D | 0.2103 | likely_benign | 0.1618 | benign | -0.293 | Destabilizing | 0.001 | N | 0.224 | neutral | N | 0.440976102 | None | -0.412(OBSL1) -0.415(OBSCN) | N |
| E/F | 0.7704 | likely_pathogenic | 0.7491 | pathogenic | 0.022 | Stabilizing | 0.967 | D | 0.552 | neutral | None | None | None | -0.174(OBSL1) -0.777(OBSCN) | N |
| E/G | 0.4352 | ambiguous | 0.3624 | ambiguous | -0.162 | Destabilizing | 0.505 | D | 0.539 | neutral | N | 0.49094993 | None | -0.517(OBSL1) -0.638(OBSCN) | N |
| E/H | 0.6352 | likely_pathogenic | 0.5733 | pathogenic | 0.601 | Stabilizing | 0.906 | D | 0.423 | neutral | None | None | None | 0.757(OBSL1) 0.38(OBSCN) | N |
| E/I | 0.4168 | ambiguous | 0.3979 | ambiguous | 0.266 | Stabilizing | 0.906 | D | 0.555 | neutral | None | None | None | 0.201(OBSL1) -0.084(OBSCN) | N |
| E/K | 0.2199 | likely_benign | 0.1805 | benign | 0.496 | Stabilizing | 0.505 | D | 0.451 | neutral | N | 0.495213232 | None | 0.142(OBSL1) -0.328(OBSCN) | N |
| E/L | 0.5687 | likely_pathogenic | 0.533 | ambiguous | 0.266 | Stabilizing | 0.906 | D | 0.519 | neutral | None | None | None | 0.201(OBSL1) -0.084(OBSCN) | N |
| E/M | 0.5405 | ambiguous | 0.532 | ambiguous | 0.051 | Stabilizing | 0.991 | D | 0.556 | neutral | None | None | None | 0.779(OBSL1) 0.959(OBSCN) | N |
| E/N | 0.3672 | ambiguous | 0.3093 | benign | 0.136 | Stabilizing | 0.404 | N | 0.429 | neutral | None | None | None | -1.385(OBSL1) -1.838(OBSCN) | N |
| E/P | 0.9493 | likely_pathogenic | 0.9168 | pathogenic | 0.186 | Stabilizing | 0.906 | D | 0.478 | neutral | None | None | None | 0.03(OBSL1) -0.217(OBSCN) | N |
| E/Q | 0.2091 | likely_benign | 0.1869 | benign | 0.172 | Stabilizing | 0.505 | D | 0.453 | neutral | N | 0.509913326 | None | -0.85(OBSL1) -1.293(OBSCN) | N |
| E/R | 0.3935 | ambiguous | 0.3394 | benign | 0.731 | Stabilizing | 0.826 | D | 0.424 | neutral | None | None | None | 0.135(OBSL1) -0.185(OBSCN) | N |
| E/S | 0.3169 | likely_benign | 0.2745 | benign | 0.023 | Stabilizing | 0.05 | N | 0.258 | neutral | None | None | None | -1.183(OBSL1) -1.646(OBSCN) | N |
| E/T | 0.3614 | ambiguous | 0.3345 | benign | 0.147 | Stabilizing | 0.404 | N | 0.494 | neutral | None | None | None | -0.993(OBSL1) -1.5(OBSCN) | N |
| E/V | 0.2941 | likely_benign | 0.2717 | benign | 0.186 | Stabilizing | 0.879 | D | 0.52 | neutral | N | 0.493501078 | None | 0.03(OBSL1) -0.217(OBSCN) | N |
| E/W | 0.9412 | likely_pathogenic | 0.927 | pathogenic | 0.1 | Stabilizing | 0.991 | D | 0.615 | neutral | None | None | None | -0.321(OBSL1) -1.061(OBSCN) | N |
| E/Y | 0.6744 | likely_pathogenic | 0.6268 | pathogenic | 0.257 | Stabilizing | 0.967 | D | 0.553 | neutral | None | None | None | -0.16(OBSL1) -0.831(OBSCN) | 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.