Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14864 | 44815;44816;44817 | chr2:178624690;178624689;178624688 | chr2:179489417;179489416;179489415 |
| N2AB | 13223 | 39892;39893;39894 | chr2:178624690;178624689;178624688 | chr2:179489417;179489416;179489415 |
| N2A | 12296 | 37111;37112;37113 | chr2:178624690;178624689;178624688 | chr2:179489417;179489416;179489415 |
| N2B | 5799 | 17620;17621;17622 | chr2:178624690;178624689;178624688 | chr2:179489417;179489416;179489415 |
| Novex-1 | 5924 | 17995;17996;17997 | chr2:178624690;178624689;178624688 | chr2:179489417;179489416;179489415 |
| Novex-2 | 5991 | 18196;18197;18198 | chr2:178624690;178624689;178624688 | chr2:179489417;179489416;179489415 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs535221404  |
-1.44 | 0.983 | D | 0.717 | 0.67 | 0.828855119494 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.72E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs535221404 |
-1.44 | 0.983 | D | 0.717 | 0.67 | 0.828855119494 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs535221404 |
-1.44 | 0.983 | D | 0.717 | 0.67 | 0.828855119494 | gnomAD-4.0.0 | 2.48072E-06 | None | None | None | None | N | None | 0 | 6.67958E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs535221404 |
-0.648 | 0.773 | D | 0.521 | 0.398 | 0.672993254785 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66667E-04 |
| V/I | rs535221404 |
-0.648 | 0.773 | D | 0.521 | 0.398 | 0.672993254785 | gnomAD-4.0.0 | 1.36953E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31763E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3232 | likely_benign | 0.3222 | benign | -1.271 | Destabilizing | 0.025 | N | 0.27 | neutral | N | 0.517022115 | None | None | N |
| V/C | 0.9131 | likely_pathogenic | 0.9131 | pathogenic | -0.771 | Destabilizing | 0.997 | D | 0.692 | prob.neutral | None | None | None | None | N |
| V/D | 0.919 | likely_pathogenic | 0.9175 | pathogenic | -1.135 | Destabilizing | 0.983 | D | 0.724 | prob.delet. | D | 0.788606729 | None | None | N |
| V/E | 0.7651 | likely_pathogenic | 0.7631 | pathogenic | -1.206 | Destabilizing | 0.975 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/F | 0.5525 | ambiguous | 0.5251 | ambiguous | -1.242 | Destabilizing | 0.983 | D | 0.717 | prob.delet. | D | 0.701958867 | None | None | N |
| V/G | 0.6125 | likely_pathogenic | 0.598 | pathogenic | -1.508 | Destabilizing | 0.935 | D | 0.679 | prob.neutral | D | 0.641603673 | None | None | N |
| V/H | 0.9548 | likely_pathogenic | 0.9518 | pathogenic | -1.099 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/I | 0.1083 | likely_benign | 0.1105 | benign | -0.749 | Destabilizing | 0.773 | D | 0.521 | neutral | D | 0.565920859 | None | None | N |
| V/K | 0.8004 | likely_pathogenic | 0.7864 | pathogenic | -1.02 | Destabilizing | 0.975 | D | 0.694 | prob.neutral | None | None | None | None | N |
| V/L | 0.5075 | ambiguous | 0.4993 | ambiguous | -0.749 | Destabilizing | 0.63 | D | 0.481 | neutral | D | 0.594150117 | None | None | N |
| V/M | 0.3338 | likely_benign | 0.3213 | benign | -0.488 | Destabilizing | 0.996 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/N | 0.8756 | likely_pathogenic | 0.8668 | pathogenic | -0.687 | Destabilizing | 0.987 | D | 0.745 | deleterious | None | None | None | None | N |
| V/P | 0.9773 | likely_pathogenic | 0.9771 | pathogenic | -0.888 | Destabilizing | 0.987 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/Q | 0.7927 | likely_pathogenic | 0.7883 | pathogenic | -0.961 | Destabilizing | 0.987 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/R | 0.7589 | likely_pathogenic | 0.7397 | pathogenic | -0.432 | Destabilizing | 0.987 | D | 0.743 | deleterious | None | None | None | None | N |
| V/S | 0.6445 | likely_pathogenic | 0.6362 | pathogenic | -1.108 | Destabilizing | 0.95 | D | 0.666 | neutral | None | None | None | None | N |
| V/T | 0.361 | ambiguous | 0.3803 | ambiguous | -1.082 | Destabilizing | 0.916 | D | 0.559 | neutral | None | None | None | None | N |
| V/W | 0.9836 | likely_pathogenic | 0.9824 | pathogenic | -1.35 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9376 | likely_pathogenic | 0.9295 | pathogenic | -1.078 | Destabilizing | 0.996 | D | 0.719 | prob.delet. | 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.