Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7139 | 21640;21641;21642 | chr2:178723685;178723684;178723683 | chr2:179588412;179588411;179588410 |
| N2AB | 6822 | 20689;20690;20691 | chr2:178723685;178723684;178723683 | chr2:179588412;179588411;179588410 |
| N2A | 5895 | 17908;17909;17910 | chr2:178723685;178723684;178723683 | chr2:179588412;179588411;179588410 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.948 | N | 0.654 | 0.551 | 0.509521504481 | gnomAD-4.0.0 | 6.97654E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.69405E-05 |
| F/S | rs374010248  |
None | 0.999 | D | 0.876 | 0.747 | 0.80943609516 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/S | rs374010248 |
None | 0.999 | D | 0.876 | 0.747 | 0.80943609516 | gnomAD-4.0.0 | 2.52358E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.4246E-06 | 0 | 0 |
| F/Y | rs374010248 |
-0.947 | 0.998 | D | 0.669 | 0.608 | None | gnomAD-2.1.1 | 5.97E-05 | None | None | None | None | N | None | 5.91266E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.59949E-04 |
| F/Y | rs374010248 |
-0.947 | 0.998 | D | 0.669 | 0.608 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.17129E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/Y | rs374010248 |
-0.947 | 0.998 | D | 0.669 | 0.608 | None | gnomAD-4.0.0 | 1.51403E-05 | None | None | None | None | N | None | 2.84784E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.90549E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9591 | likely_pathogenic | 0.9514 | pathogenic | -2.594 | Highly Destabilizing | 0.996 | D | 0.828 | deleterious | None | None | None | None | N |
| F/C | 0.9151 | likely_pathogenic | 0.9048 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.564441177 | None | None | N |
| F/D | 0.9949 | likely_pathogenic | 0.9932 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/E | 0.9951 | likely_pathogenic | 0.9935 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/G | 0.9903 | likely_pathogenic | 0.988 | pathogenic | -2.935 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/H | 0.97 | likely_pathogenic | 0.9657 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| F/I | 0.5979 | likely_pathogenic | 0.5623 | ambiguous | -1.548 | Destabilizing | 0.733 | D | 0.473 | neutral | N | 0.519284957 | None | None | N |
| F/K | 0.9944 | likely_pathogenic | 0.9928 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/L | 0.9624 | likely_pathogenic | 0.9564 | pathogenic | -1.548 | Destabilizing | 0.948 | D | 0.654 | neutral | N | 0.493323922 | None | None | N |
| F/M | 0.8716 | likely_pathogenic | 0.8551 | pathogenic | -1.156 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| F/N | 0.9836 | likely_pathogenic | 0.9798 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/P | 0.9955 | likely_pathogenic | 0.9935 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9925 | likely_pathogenic | 0.9906 | pathogenic | -1.41 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/R | 0.9831 | likely_pathogenic | 0.9784 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/S | 0.9563 | likely_pathogenic | 0.9474 | pathogenic | -2.022 | Highly Destabilizing | 0.999 | D | 0.876 | deleterious | D | 0.563934198 | None | None | N |
| F/T | 0.964 | likely_pathogenic | 0.9556 | pathogenic | -1.855 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| F/V | 0.635 | likely_pathogenic | 0.6016 | pathogenic | -1.894 | Destabilizing | 0.978 | D | 0.722 | prob.delet. | N | 0.51428856 | None | None | N |
| F/W | 0.8585 | likely_pathogenic | 0.842 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| F/Y | 0.5834 | likely_pathogenic | 0.572 | pathogenic | -0.906 | Destabilizing | 0.998 | D | 0.669 | neutral | D | 0.552831382 | 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.