Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23953 | 72082;72083;72084 | chr2:178574275;178574274;178574273 | chr2:179439002;179439001;179439000 |
| N2AB | 22312 | 67159;67160;67161 | chr2:178574275;178574274;178574273 | chr2:179439002;179439001;179439000 |
| N2A | 21385 | 64378;64379;64380 | chr2:178574275;178574274;178574273 | chr2:179439002;179439001;179439000 |
| N2B | 14888 | 44887;44888;44889 | chr2:178574275;178574274;178574273 | chr2:179439002;179439001;179439000 |
| Novex-1 | 15013 | 45262;45263;45264 | chr2:178574275;178574274;178574273 | chr2:179439002;179439001;179439000 |
| Novex-2 | 15080 | 45463;45464;45465 | chr2:178574275;178574274;178574273 | chr2:179439002;179439001;179439000 |
| 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/C | rs992436361  |
-0.545 | 1.0 | D | 0.798 | 0.621 | 0.728735978379 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/C | rs992436361 |
-0.545 | 1.0 | D | 0.798 | 0.621 | 0.728735978379 | gnomAD-4.0.0 | 2.73805E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59908E-06 | 0 | 0 |
| G/D | rs1272483888 |
0.134 | 1.0 | N | 0.765 | 0.61 | 0.43912465853 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.12423E-04 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1272483888 |
0.134 | 1.0 | N | 0.765 | 0.61 | 0.43912465853 | gnomAD-4.0.0 | 6.37564E-06 | None | None | None | None | I | None | 0 | 2.28781E-05 | None | 0 | 8.35282E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.755 | 0.577 | 0.370051654043 | gnomAD-4.0.0 | 6.84513E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99771E-07 | 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 | 0.5864 | likely_pathogenic | 0.664 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.487974875 | None | None | I |
| G/C | 0.7232 | likely_pathogenic | 0.7525 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.527768237 | None | None | I |
| G/D | 0.8289 | likely_pathogenic | 0.8679 | pathogenic | -0.042 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.506572882 | None | None | I |
| G/E | 0.8905 | likely_pathogenic | 0.9193 | pathogenic | -0.164 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/F | 0.9573 | likely_pathogenic | 0.9688 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/H | 0.9301 | likely_pathogenic | 0.9501 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/I | 0.8581 | likely_pathogenic | 0.8929 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/K | 0.9453 | likely_pathogenic | 0.9599 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/L | 0.9142 | likely_pathogenic | 0.9405 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/M | 0.938 | likely_pathogenic | 0.956 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.7724 | likely_pathogenic | 0.8296 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/P | 0.9724 | likely_pathogenic | 0.9813 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Q | 0.9039 | likely_pathogenic | 0.9306 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/R | 0.8752 | likely_pathogenic | 0.8995 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.508396534 | None | None | I |
| G/S | 0.3884 | ambiguous | 0.4724 | ambiguous | -0.582 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.497191586 | None | None | I |
| G/T | 0.7602 | likely_pathogenic | 0.8183 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/V | 0.8337 | likely_pathogenic | 0.8754 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.5492134 | None | None | I |
| G/W | 0.9343 | likely_pathogenic | 0.9422 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Y | 0.9153 | likely_pathogenic | 0.9318 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.791 | 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.