Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31411 | 94456;94457;94458 | chr2:178547294;178547293;178547292 | chr2:179412021;179412020;179412019 |
| N2AB | 29770 | 89533;89534;89535 | chr2:178547294;178547293;178547292 | chr2:179412021;179412020;179412019 |
| N2A | 28843 | 86752;86753;86754 | chr2:178547294;178547293;178547292 | chr2:179412021;179412020;179412019 |
| N2B | 22346 | 67261;67262;67263 | chr2:178547294;178547293;178547292 | chr2:179412021;179412020;179412019 |
| Novex-1 | 22471 | 67636;67637;67638 | chr2:178547294;178547293;178547292 | chr2:179412021;179412020;179412019 |
| Novex-2 | 22538 | 67837;67838;67839 | chr2:178547294;178547293;178547292 | chr2:179412021;179412020;179412019 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs745652405  |
-1.436 | 0.98 | N | 0.746 | 0.307 | None | gnomAD-2.1.1 | 4.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.0674E-04 | None | 3.41E-05 | None | 0 | 3.97E-05 | 1.4497E-04 |
| A/T | rs745652405 |
-1.436 | 0.98 | N | 0.746 | 0.307 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85208E-04 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| A/T | rs745652405 |
-1.436 | 0.98 | N | 0.746 | 0.307 | None | gnomAD-4.0.0 | 1.68125E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.33935E-04 | None | 1.56833E-05 | 0 | 1.10578E-05 | 3.33104E-05 | 6.44891E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4746 | ambiguous | 0.3901 | ambiguous | -1.446 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/D | 0.7926 | likely_pathogenic | 0.7669 | pathogenic | -1.945 | Destabilizing | 0.984 | D | 0.807 | deleterious | N | 0.506143079 | None | None | N |
| A/E | 0.56 | ambiguous | 0.5303 | ambiguous | -1.949 | Destabilizing | 0.919 | D | 0.803 | deleterious | None | None | None | None | N |
| A/F | 0.5125 | ambiguous | 0.4496 | ambiguous | -1.263 | Destabilizing | 0.996 | D | 0.826 | deleterious | None | None | None | None | N |
| A/G | 0.2448 | likely_benign | 0.2293 | benign | -1.361 | Destabilizing | 0.896 | D | 0.723 | prob.delet. | N | 0.494875679 | None | None | N |
| A/H | 0.6715 | likely_pathogenic | 0.6203 | pathogenic | -1.313 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| A/I | 0.3479 | ambiguous | 0.2794 | benign | -0.606 | Destabilizing | 0.988 | D | 0.803 | deleterious | None | None | None | None | N |
| A/K | 0.8211 | likely_pathogenic | 0.7883 | pathogenic | -1.163 | Destabilizing | 0.919 | D | 0.801 | deleterious | None | None | None | None | N |
| A/L | 0.2977 | likely_benign | 0.2577 | benign | -0.606 | Destabilizing | 0.919 | D | 0.794 | deleterious | None | None | None | None | N |
| A/M | 0.3072 | likely_benign | 0.2604 | benign | -0.713 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| A/N | 0.5119 | ambiguous | 0.468 | ambiguous | -1.115 | Destabilizing | 0.988 | D | 0.833 | deleterious | None | None | None | None | N |
| A/P | 0.0933 | likely_benign | 0.0797 | benign | -0.742 | Destabilizing | 0.009 | N | 0.507 | neutral | N | 0.388864053 | None | None | N |
| A/Q | 0.4837 | ambiguous | 0.4353 | ambiguous | -1.329 | Destabilizing | 0.988 | D | 0.794 | deleterious | None | None | None | None | N |
| A/R | 0.7684 | likely_pathogenic | 0.7281 | pathogenic | -0.83 | Destabilizing | 0.988 | D | 0.803 | deleterious | None | None | None | None | N |
| A/S | 0.1086 | likely_benign | 0.1061 | benign | -1.451 | Destabilizing | 0.956 | D | 0.731 | prob.delet. | N | 0.512963913 | None | None | N |
| A/T | 0.1539 | likely_benign | 0.1419 | benign | -1.373 | Destabilizing | 0.98 | D | 0.746 | deleterious | N | 0.483265884 | None | None | N |
| A/V | 0.1768 | likely_benign | 0.1433 | benign | -0.742 | Destabilizing | 0.946 | D | 0.735 | prob.delet. | N | 0.521007393 | None | None | N |
| A/W | 0.897 | likely_pathogenic | 0.8647 | pathogenic | -1.546 | Destabilizing | 0.999 | D | 0.808 | deleterious | None | None | None | None | N |
| A/Y | 0.6711 | likely_pathogenic | 0.5963 | pathogenic | -1.141 | Destabilizing | 0.996 | D | 0.825 | 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.