Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20087 | 60484;60485;60486 | chr2:178591466;178591465;178591464 | chr2:179456193;179456192;179456191 |
| N2AB | 18446 | 55561;55562;55563 | chr2:178591466;178591465;178591464 | chr2:179456193;179456192;179456191 |
| N2A | 17519 | 52780;52781;52782 | chr2:178591466;178591465;178591464 | chr2:179456193;179456192;179456191 |
| N2B | 11022 | 33289;33290;33291 | chr2:178591466;178591465;178591464 | chr2:179456193;179456192;179456191 |
| Novex-1 | 11147 | 33664;33665;33666 | chr2:178591466;178591465;178591464 | chr2:179456193;179456192;179456191 |
| Novex-2 | 11214 | 33865;33866;33867 | chr2:178591466;178591465;178591464 | chr2:179456193;179456192;179456191 |
| 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/D | None | None | 1.0 | N | 0.836 | 0.462 | 0.258283824007 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/S | rs761836336  |
-0.594 | 1.0 | N | 0.716 | 0.444 | 0.235038932564 | gnomAD-2.1.1 | 4.46E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.46E-06 | 0 |
| G/V | None | None | 1.0 | N | 0.859 | 0.468 | 0.461759001683 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 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 | 0.5988 | likely_pathogenic | 0.6363 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.490878408 | None | None | N |
| G/C | 0.8269 | likely_pathogenic | 0.8634 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.453223352 | None | None | N |
| G/D | 0.8015 | likely_pathogenic | 0.848 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.423130476 | None | None | N |
| G/E | 0.8395 | likely_pathogenic | 0.8736 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/F | 0.9718 | likely_pathogenic | 0.9786 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/H | 0.9413 | likely_pathogenic | 0.9499 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/I | 0.9016 | likely_pathogenic | 0.9302 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/K | 0.946 | likely_pathogenic | 0.9528 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/L | 0.9565 | likely_pathogenic | 0.9628 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/M | 0.9339 | likely_pathogenic | 0.951 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/N | 0.7775 | likely_pathogenic | 0.8046 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/P | 0.9922 | likely_pathogenic | 0.9944 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/Q | 0.9117 | likely_pathogenic | 0.9258 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.9348 | likely_pathogenic | 0.9451 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.503711632 | None | None | N |
| G/S | 0.4887 | ambiguous | 0.53 | ambiguous | -1.044 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.461592864 | None | None | N |
| G/T | 0.6757 | likely_pathogenic | 0.7393 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/V | 0.8097 | likely_pathogenic | 0.8673 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.494553431 | None | None | N |
| G/W | 0.9561 | likely_pathogenic | 0.968 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Y | 0.9351 | likely_pathogenic | 0.9476 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.827 | 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.