Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15593 | 47002;47003;47004 | chr2:178618773;178618772;178618771 | chr2:179483500;179483499;179483498 |
| N2AB | 13952 | 42079;42080;42081 | chr2:178618773;178618772;178618771 | chr2:179483500;179483499;179483498 |
| N2A | 13025 | 39298;39299;39300 | chr2:178618773;178618772;178618771 | chr2:179483500;179483499;179483498 |
| N2B | 6528 | 19807;19808;19809 | chr2:178618773;178618772;178618771 | chr2:179483500;179483499;179483498 |
| Novex-1 | 6653 | 20182;20183;20184 | chr2:178618773;178618772;178618771 | chr2:179483500;179483499;179483498 |
| Novex-2 | 6720 | 20383;20384;20385 | chr2:178618773;178618772;178618771 | chr2:179483500;179483499;179483498 |
| 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 | rs1253393520  |
-1.139 | 1.0 | D | 0.801 | 0.452 | 0.490908442424 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs1253393520 |
-1.139 | 1.0 | D | 0.801 | 0.452 | 0.490908442424 | gnomAD-4.0.0 | 1.59636E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43456E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7251 | likely_pathogenic | 0.7324 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| A/D | 0.9534 | likely_pathogenic | 0.9603 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.529304912 | None | None | N |
| A/E | 0.9696 | likely_pathogenic | 0.9725 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/F | 0.9244 | likely_pathogenic | 0.9299 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/G | 0.1647 | likely_benign | 0.1868 | benign | -1.191 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.459299641 | None | None | N |
| A/H | 0.9718 | likely_pathogenic | 0.9716 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| A/I | 0.8794 | likely_pathogenic | 0.8954 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/K | 0.9881 | likely_pathogenic | 0.9893 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/L | 0.8348 | likely_pathogenic | 0.8515 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/M | 0.8834 | likely_pathogenic | 0.9052 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/N | 0.9123 | likely_pathogenic | 0.9178 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/P | 0.9517 | likely_pathogenic | 0.9637 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.816 | deleterious | D | 0.531992812 | None | None | N |
| A/Q | 0.9575 | likely_pathogenic | 0.9577 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| A/R | 0.9618 | likely_pathogenic | 0.9617 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/S | 0.1769 | likely_benign | 0.1897 | benign | -1.167 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.530471166 | None | None | N |
| A/T | 0.4316 | ambiguous | 0.476 | ambiguous | -1.101 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.531550939 | None | None | N |
| A/V | 0.6398 | likely_pathogenic | 0.6905 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.531992812 | None | None | N |
| A/W | 0.992 | likely_pathogenic | 0.9925 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| A/Y | 0.9613 | likely_pathogenic | 0.9605 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.767 | 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.