Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25191 | 75796;75797;75798 | chr2:178570561;178570560;178570559 | chr2:179435288;179435287;179435286 |
| N2AB | 23550 | 70873;70874;70875 | chr2:178570561;178570560;178570559 | chr2:179435288;179435287;179435286 |
| N2A | 22623 | 68092;68093;68094 | chr2:178570561;178570560;178570559 | chr2:179435288;179435287;179435286 |
| N2B | 16126 | 48601;48602;48603 | chr2:178570561;178570560;178570559 | chr2:179435288;179435287;179435286 |
| Novex-1 | 16251 | 48976;48977;48978 | chr2:178570561;178570560;178570559 | chr2:179435288;179435287;179435286 |
| Novex-2 | 16318 | 49177;49178;49179 | chr2:178570561;178570560;178570559 | chr2:179435288;179435287;179435286 |
| 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 | rs767718233  |
-0.57 | 0.865 | D | 0.548 | 0.755 | 0.457106177737 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/A | rs767718233 |
-0.57 | 0.865 | D | 0.548 | 0.755 | 0.457106177737 | gnomAD-4.0.0 | 2.05318E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47834E-05 | 0 |
| G/E | None | -1.291 | 0.978 | D | 0.783 | 0.752 | 0.622375070377 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 2.35E-05 | 0 |
| G/E | None | -1.291 | 0.978 | D | 0.783 | 0.752 | 0.622375070377 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 4.14422E-04 | 0 |
| G/E | None | -1.291 | 0.978 | D | 0.783 | 0.752 | 0.622375070377 | gnomAD-4.0.0 | 2.16956E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.86502E-05 | 1.31761E-04 | 1.6021E-05 |
| G/R | rs763964097 |
-0.437 | 0.175 | D | 0.506 | 0.752 | 0.631501200734 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs763964097 |
-0.437 | 0.175 | D | 0.506 | 0.752 | 0.631501200734 | gnomAD-4.0.0 | 1.59226E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| G/V | rs767718233 |
-0.438 | 0.175 | D | 0.509 | 0.729 | 0.628213846089 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/V | rs767718233 |
-0.438 | 0.175 | D | 0.509 | 0.729 | 0.628213846089 | gnomAD-4.0.0 | 4.10636E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52781E-05 | None | 0 | 0 | 4.49792E-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 | 0.6646 | likely_pathogenic | 0.7119 | pathogenic | -0.271 | Destabilizing | 0.865 | D | 0.548 | neutral | D | 0.611748071 | None | None | I |
| G/C | 0.85 | likely_pathogenic | 0.8817 | pathogenic | -0.887 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | I |
| G/D | 0.9022 | likely_pathogenic | 0.9276 | pathogenic | -0.767 | Destabilizing | 0.983 | D | 0.771 | deleterious | None | None | None | None | I |
| G/E | 0.9228 | likely_pathogenic | 0.9447 | pathogenic | -0.94 | Destabilizing | 0.978 | D | 0.783 | deleterious | D | 0.564112008 | None | None | I |
| G/F | 0.9791 | likely_pathogenic | 0.9849 | pathogenic | -1.056 | Destabilizing | 0.996 | D | 0.797 | deleterious | None | None | None | None | I |
| G/H | 0.9606 | likely_pathogenic | 0.9743 | pathogenic | -0.501 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | I |
| G/I | 0.9791 | likely_pathogenic | 0.9849 | pathogenic | -0.475 | Destabilizing | 0.968 | D | 0.774 | deleterious | None | None | None | None | I |
| G/K | 0.9475 | likely_pathogenic | 0.9678 | pathogenic | -0.87 | Destabilizing | 0.968 | D | 0.785 | deleterious | None | None | None | None | I |
| G/L | 0.96 | likely_pathogenic | 0.9719 | pathogenic | -0.475 | Destabilizing | 0.968 | D | 0.792 | deleterious | None | None | None | None | I |
| G/M | 0.9682 | likely_pathogenic | 0.978 | pathogenic | -0.526 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.9174 | likely_pathogenic | 0.9395 | pathogenic | -0.492 | Destabilizing | 0.983 | D | 0.748 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.377 | Destabilizing | 0.997 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Q | 0.9171 | likely_pathogenic | 0.9426 | pathogenic | -0.805 | Destabilizing | 0.983 | D | 0.781 | deleterious | None | None | None | None | I |
| G/R | 0.8811 | likely_pathogenic | 0.9216 | pathogenic | -0.383 | Destabilizing | 0.175 | N | 0.506 | neutral | D | 0.628201401 | None | None | I |
| G/S | 0.5086 | ambiguous | 0.5496 | ambiguous | -0.587 | Destabilizing | 0.983 | D | 0.765 | deleterious | None | None | None | None | I |
| G/T | 0.8784 | likely_pathogenic | 0.9038 | pathogenic | -0.7 | Destabilizing | 0.983 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.949 | likely_pathogenic | 0.9619 | pathogenic | -0.377 | Destabilizing | 0.175 | N | 0.509 | neutral | D | 0.644826175 | None | None | I |
| G/W | 0.9556 | likely_pathogenic | 0.9678 | pathogenic | -1.196 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | I |
| G/Y | 0.9669 | likely_pathogenic | 0.9749 | pathogenic | -0.863 | Destabilizing | 0.998 | D | 0.803 | 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.