Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27234 | 81925;81926;81927 | chr2:178564432;178564431;178564430 | chr2:179429159;179429158;179429157 |
| N2AB | 25593 | 77002;77003;77004 | chr2:178564432;178564431;178564430 | chr2:179429159;179429158;179429157 |
| N2A | 24666 | 74221;74222;74223 | chr2:178564432;178564431;178564430 | chr2:179429159;179429158;179429157 |
| N2B | 18169 | 54730;54731;54732 | chr2:178564432;178564431;178564430 | chr2:179429159;179429158;179429157 |
| Novex-1 | 18294 | 55105;55106;55107 | chr2:178564432;178564431;178564430 | chr2:179429159;179429158;179429157 |
| Novex-2 | 18361 | 55306;55307;55308 | chr2:178564432;178564431;178564430 | chr2:179429159;179429158;179429157 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs372189553  |
-0.427 | 1.0 | N | 0.744 | 0.409 | None | gnomAD-2.1.1 | 3.96E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.91E-05 | 0 |
| G/E | rs372189553 |
-0.427 | 1.0 | N | 0.744 | 0.409 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| G/E | rs372189553 |
-0.427 | 1.0 | N | 0.744 | 0.409 | None | gnomAD-4.0.0 | 3.96824E-05 | None | None | None | None | N | None | 4.00555E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.74819E-05 | 0 | 8.01128E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3137 | likely_benign | 0.2879 | benign | -0.28 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.489628078 | None | None | N |
| G/C | 0.5118 | ambiguous | 0.5045 | ambiguous | -0.859 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/D | 0.6502 | likely_pathogenic | 0.6425 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/E | 0.7258 | likely_pathogenic | 0.6937 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.474130716 | None | None | N |
| G/F | 0.9074 | likely_pathogenic | 0.8943 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| G/H | 0.7963 | likely_pathogenic | 0.7888 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/I | 0.8378 | likely_pathogenic | 0.8148 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/K | 0.9156 | likely_pathogenic | 0.904 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/L | 0.827 | likely_pathogenic | 0.8035 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/M | 0.8398 | likely_pathogenic | 0.8213 | pathogenic | -0.495 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/N | 0.4801 | ambiguous | 0.4736 | ambiguous | -0.444 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/P | 0.9819 | likely_pathogenic | 0.9782 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Q | 0.7537 | likely_pathogenic | 0.7328 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/R | 0.8159 | likely_pathogenic | 0.7914 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.483854407 | None | None | N |
| G/S | 0.1697 | likely_benign | 0.1612 | benign | -0.586 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| G/T | 0.4958 | ambiguous | 0.4701 | ambiguous | -0.671 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/V | 0.7182 | likely_pathogenic | 0.6867 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.531458902 | None | None | N |
| G/W | 0.8665 | likely_pathogenic | 0.8482 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/Y | 0.8576 | likely_pathogenic | 0.8459 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | 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.