Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28950 | 87073;87074;87075 | chr2:178558611;178558610;178558609 | chr2:179423338;179423337;179423336 |
| N2AB | 27309 | 82150;82151;82152 | chr2:178558611;178558610;178558609 | chr2:179423338;179423337;179423336 |
| N2A | 26382 | 79369;79370;79371 | chr2:178558611;178558610;178558609 | chr2:179423338;179423337;179423336 |
| N2B | 19885 | 59878;59879;59880 | chr2:178558611;178558610;178558609 | chr2:179423338;179423337;179423336 |
| Novex-1 | 20010 | 60253;60254;60255 | chr2:178558611;178558610;178558609 | chr2:179423338;179423337;179423336 |
| Novex-2 | 20077 | 60454;60455;60456 | chr2:178558611;178558610;178558609 | chr2:179423338;179423337;179423336 |
| 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 | rs778672490  |
-0.032 | 1.0 | N | 0.862 | 0.437 | 0.337378238328 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 1.67673E-04 |
| G/E | rs778672490 |
-0.032 | 1.0 | N | 0.862 | 0.437 | 0.337378238328 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/E | rs778672490 |
-0.032 | 1.0 | N | 0.862 | 0.437 | 0.337378238328 | gnomAD-4.0.0 | 1.2408E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6957E-05 | 0 | 0 |
| G/R | rs886044180 |
-0.383 | 1.0 | N | 0.849 | 0.395 | 0.414798848334 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs886044180 |
-0.383 | 1.0 | N | 0.849 | 0.395 | 0.414798848334 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs886044180 |
-0.383 | 1.0 | N | 0.849 | 0.395 | 0.414798848334 | gnomAD-4.0.0 | 4.06001E-06 | None | None | None | None | N | None | 3.49528E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40987E-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 | 0.1148 | likely_benign | 0.1168 | benign | -0.389 | Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.429571738 | None | None | N |
| G/C | 0.234 | likely_benign | 0.2235 | benign | -0.885 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/D | 0.4267 | ambiguous | 0.3916 | ambiguous | -0.425 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/E | 0.353 | ambiguous | 0.3211 | benign | -0.467 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.371504869 | None | None | N |
| G/F | 0.5861 | likely_pathogenic | 0.5692 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/H | 0.496 | ambiguous | 0.4567 | ambiguous | -0.864 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/I | 0.3048 | likely_benign | 0.3019 | benign | -0.033 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/K | 0.6304 | likely_pathogenic | 0.5843 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.3944 | ambiguous | 0.3881 | ambiguous | -0.033 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/M | 0.4214 | ambiguous | 0.4241 | ambiguous | -0.272 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| G/N | 0.377 | ambiguous | 0.3722 | ambiguous | -0.706 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/P | 0.9586 | likely_pathogenic | 0.9542 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/Q | 0.4277 | ambiguous | 0.3934 | ambiguous | -0.783 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.4756 | ambiguous | 0.4327 | ambiguous | -0.664 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.393802939 | None | None | N |
| G/S | 0.1171 | likely_benign | 0.1189 | benign | -1.005 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/T | 0.1533 | likely_benign | 0.1531 | benign | -0.934 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/V | 0.2087 | likely_benign | 0.2073 | benign | -0.109 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.404617365 | None | None | N |
| G/W | 0.5028 | ambiguous | 0.4861 | ambiguous | -1.093 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/Y | 0.4915 | ambiguous | 0.4662 | ambiguous | -0.623 | Destabilizing | 1.0 | D | 0.851 | 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.