Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29817 | 89674;89675;89676 | chr2:178553556;178553555;178553554 | chr2:179418283;179418282;179418281 |
| N2AB | 28176 | 84751;84752;84753 | chr2:178553556;178553555;178553554 | chr2:179418283;179418282;179418281 |
| N2A | 27249 | 81970;81971;81972 | chr2:178553556;178553555;178553554 | chr2:179418283;179418282;179418281 |
| N2B | 20752 | 62479;62480;62481 | chr2:178553556;178553555;178553554 | chr2:179418283;179418282;179418281 |
| Novex-1 | 20877 | 62854;62855;62856 | chr2:178553556;178553555;178553554 | chr2:179418283;179418282;179418281 |
| Novex-2 | 20944 | 63055;63056;63057 | chr2:178553556;178553555;178553554 | chr2:179418283;179418282;179418281 |
| 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/A | rs778747498  |
None | 1.0 | D | 0.761 | 0.691 | 0.411001663086 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs778747498 |
None | 1.0 | D | 0.761 | 0.691 | 0.411001663086 | gnomAD-4.0.0 | 6.56987E-06 | None | None | None | None | I | None | 2.41185E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs778747498 |
-1.022 | 1.0 | D | 0.909 | 0.703 | 0.715729387031 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs778747498 |
-1.022 | 1.0 | D | 0.909 | 0.703 | 0.715729387031 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | I | None | 2.98686E-05 | 0 | None | 0 | 2.51927E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7289 | likely_pathogenic | 0.7443 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.530202498 | None | None | I |
| G/C | 0.8376 | likely_pathogenic | 0.8574 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/D | 0.8819 | likely_pathogenic | 0.8928 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | I |
| G/E | 0.9001 | likely_pathogenic | 0.9143 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.553586672 | None | None | I |
| G/F | 0.9702 | likely_pathogenic | 0.9734 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/H | 0.9289 | likely_pathogenic | 0.9464 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9667 | likely_pathogenic | 0.9702 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/K | 0.9002 | likely_pathogenic | 0.9245 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9551 | likely_pathogenic | 0.9598 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/M | 0.969 | likely_pathogenic | 0.9726 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/N | 0.9048 | likely_pathogenic | 0.9219 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/P | 0.9968 | likely_pathogenic | 0.9969 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/Q | 0.8661 | likely_pathogenic | 0.8941 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| G/R | 0.8249 | likely_pathogenic | 0.8528 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.542065782 | None | None | I |
| G/S | 0.5193 | ambiguous | 0.5305 | ambiguous | -0.84 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/T | 0.8697 | likely_pathogenic | 0.887 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/V | 0.9329 | likely_pathogenic | 0.9351 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.520985786 | None | None | I |
| G/W | 0.9521 | likely_pathogenic | 0.9565 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9489 | likely_pathogenic | 0.9583 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | I |
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.