Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2140 | 6643;6644;6645 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
| N2AB | 2140 | 6643;6644;6645 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
| N2A | 2140 | 6643;6644;6645 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
| N2B | 2094 | 6505;6506;6507 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
| Novex-1 | 2094 | 6505;6506;6507 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
| Novex-2 | 2094 | 6505;6506;6507 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
| Novex-3 | 2140 | 6643;6644;6645 | chr2:178775446;178775445;178775444 | chr2:179640173;179640172;179640171 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs777009984  |
-0.37 | 1.0 | D | 0.46 | 0.428 | 0.37568098594 | gnomAD-2.1.1 | 5.67E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.16337E-04 | 1.38696E-04 |
| D/E | rs777009984 |
-0.37 | 1.0 | D | 0.46 | 0.428 | 0.37568098594 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.32326E-04 | 0 | 0 |
| D/E | rs777009984 |
-0.37 | 1.0 | D | 0.46 | 0.428 | 0.37568098594 | gnomAD-4.0.0 | 3.53174E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.74578E-05 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3424 | ambiguous | 0.3566 | ambiguous | -0.475 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.535450954 | None | None | N |
| D/C | 0.8519 | likely_pathogenic | 0.8572 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| D/E | 0.2284 | likely_benign | 0.2291 | benign | -0.47 | Destabilizing | 1.0 | D | 0.46 | neutral | D | 0.528333096 | None | None | N |
| D/F | 0.7781 | likely_pathogenic | 0.7883 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/G | 0.2288 | likely_benign | 0.2438 | benign | -0.687 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.535278661 | None | None | N |
| D/H | 0.4501 | ambiguous | 0.4716 | ambiguous | -0.804 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.584511715 | None | None | N |
| D/I | 0.8145 | likely_pathogenic | 0.8214 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| D/K | 0.6078 | likely_pathogenic | 0.6295 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/L | 0.6831 | likely_pathogenic | 0.696 | pathogenic | 0.041 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/M | 0.8081 | likely_pathogenic | 0.8155 | pathogenic | 0.465 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/N | 0.1036 | likely_benign | 0.1043 | benign | -0.095 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.46080867 | None | None | N |
| D/P | 0.958 | likely_pathogenic | 0.9657 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/Q | 0.4872 | ambiguous | 0.5013 | ambiguous | -0.081 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/R | 0.625 | likely_pathogenic | 0.6486 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| D/S | 0.2113 | likely_benign | 0.215 | benign | -0.233 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/T | 0.5207 | ambiguous | 0.5339 | ambiguous | -0.07 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| D/V | 0.6217 | likely_pathogenic | 0.6311 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.696467551 | None | None | N |
| D/W | 0.9432 | likely_pathogenic | 0.9489 | pathogenic | -0.555 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/Y | 0.3829 | ambiguous | 0.3984 | ambiguous | -0.419 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.644606664 | 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.