Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26642 | 80149;80150;80151 | chr2:178566208;178566207;178566206 | chr2:179430935;179430934;179430933 |
| N2AB | 25001 | 75226;75227;75228 | chr2:178566208;178566207;178566206 | chr2:179430935;179430934;179430933 |
| N2A | 24074 | 72445;72446;72447 | chr2:178566208;178566207;178566206 | chr2:179430935;179430934;179430933 |
| N2B | 17577 | 52954;52955;52956 | chr2:178566208;178566207;178566206 | chr2:179430935;179430934;179430933 |
| Novex-1 | 17702 | 53329;53330;53331 | chr2:178566208;178566207;178566206 | chr2:179430935;179430934;179430933 |
| Novex-2 | 17769 | 53530;53531;53532 | chr2:178566208;178566207;178566206 | chr2:179430935;179430934;179430933 |
| 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 | rs778486315  |
-0.232 | 0.83 | N | 0.678 | 0.305 | 0.580509188723 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/E | rs778486315 |
-0.232 | 0.83 | N | 0.678 | 0.305 | 0.580509188723 | gnomAD-4.0.0 | 1.36851E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79905E-06 | 0 | 0 |
| G/R | None | None | 0.83 | N | 0.687 | 0.389 | 0.77029934569 | gnomAD-4.0.0 | 1.59148E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85884E-06 | 0 | 0 |
| G/V | None | None | 0.709 | N | 0.687 | 0.291 | 0.7895510759 | gnomAD-4.0.0 | 6.84253E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99526E-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 | 0.1055 | likely_benign | 0.07 | benign | -0.275 | Destabilizing | 0.01 | N | 0.325 | neutral | N | 0.509083819 | None | None | N |
| G/C | 0.2618 | likely_benign | 0.1894 | benign | -0.458 | Destabilizing | 0.98 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/D | 0.3193 | likely_benign | 0.2215 | benign | -0.424 | Destabilizing | 0.764 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/E | 0.3359 | likely_benign | 0.2293 | benign | -0.443 | Destabilizing | 0.83 | D | 0.678 | prob.neutral | N | 0.477643405 | None | None | N |
| G/F | 0.6504 | likely_pathogenic | 0.5202 | ambiguous | -0.552 | Destabilizing | 0.98 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/H | 0.5385 | ambiguous | 0.416 | ambiguous | -0.758 | Destabilizing | 0.98 | D | 0.671 | neutral | None | None | None | None | N |
| G/I | 0.3574 | ambiguous | 0.2583 | benign | 0.133 | Stabilizing | 0.866 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/K | 0.6346 | likely_pathogenic | 0.4959 | ambiguous | -0.744 | Destabilizing | 0.866 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/L | 0.4637 | ambiguous | 0.3317 | benign | 0.133 | Stabilizing | 0.764 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/M | 0.4737 | ambiguous | 0.3455 | ambiguous | -0.045 | Destabilizing | 0.98 | D | 0.672 | neutral | None | None | None | None | N |
| G/N | 0.3112 | likely_benign | 0.2342 | benign | -0.53 | Destabilizing | 0.054 | N | 0.374 | neutral | None | None | None | None | N |
| G/P | 0.9122 | likely_pathogenic | 0.8325 | pathogenic | 0.039 | Stabilizing | 0.866 | D | 0.7 | prob.neutral | None | None | None | None | N |
| G/Q | 0.5079 | ambiguous | 0.3866 | ambiguous | -0.599 | Destabilizing | 0.929 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/R | 0.5468 | ambiguous | 0.4101 | ambiguous | -0.55 | Destabilizing | 0.83 | D | 0.687 | prob.neutral | N | 0.511334691 | None | None | N |
| G/S | 0.1164 | likely_benign | 0.091 | benign | -0.819 | Destabilizing | 0.48 | N | 0.554 | neutral | None | None | None | None | N |
| G/T | 0.154 | likely_benign | 0.107 | benign | -0.738 | Destabilizing | 0.764 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/V | 0.2304 | likely_benign | 0.1589 | benign | 0.039 | Stabilizing | 0.709 | D | 0.687 | prob.neutral | N | 0.507102307 | None | None | N |
| G/W | 0.5324 | ambiguous | 0.4424 | ambiguous | -0.985 | Destabilizing | 0.993 | D | 0.669 | neutral | None | None | None | None | N |
| G/Y | 0.525 | ambiguous | 0.4005 | ambiguous | -0.476 | Destabilizing | 0.98 | D | 0.703 | prob.neutral | 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.