Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18658 | 56197;56198;56199 | chr2:178600932;178600931;178600930 | chr2:179465659;179465658;179465657 |
| N2AB | 17017 | 51274;51275;51276 | chr2:178600932;178600931;178600930 | chr2:179465659;179465658;179465657 |
| N2A | 16090 | 48493;48494;48495 | chr2:178600932;178600931;178600930 | chr2:179465659;179465658;179465657 |
| N2B | 9593 | 29002;29003;29004 | chr2:178600932;178600931;178600930 | chr2:179465659;179465658;179465657 |
| Novex-1 | 9718 | 29377;29378;29379 | chr2:178600932;178600931;178600930 | chr2:179465659;179465658;179465657 |
| Novex-2 | 9785 | 29578;29579;29580 | chr2:178600932;178600931;178600930 | chr2:179465659;179465658;179465657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs370888932  |
-0.981 | 1.0 | N | 0.789 | 0.431 | None | gnomAD-2.1.1 | 5.01E-05 | None | None | None | None | N | None | 0 | 1.41531E-04 | None | 0 | 4.11184E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/Q | rs370888932 |
-0.981 | 1.0 | N | 0.789 | 0.431 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 0 | 1.31268E-04 | 0 | 0 | 7.78816E-04 | None | 0 | 0 | 0 | 4.14938E-04 | 0 |
| R/Q | rs370888932 |
-0.981 | 1.0 | N | 0.789 | 0.431 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| R/Q | rs370888932 |
-0.981 | 1.0 | N | 0.789 | 0.431 | None | gnomAD-4.0.0 | 3.71866E-05 | None | None | None | None | N | None | 0 | 1.35658E-04 | None | 0 | 3.4045E-04 | None | 1.56932E-05 | 0 | 4.7917E-06 | 5.36409E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9708 | likely_pathogenic | 0.9679 | pathogenic | -1.786 | Destabilizing | 0.999 | D | 0.659 | neutral | None | None | None | None | N |
| R/C | 0.6289 | likely_pathogenic | 0.5789 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| R/D | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/E | 0.9634 | likely_pathogenic | 0.9616 | pathogenic | -0.836 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| R/F | 0.9886 | likely_pathogenic | 0.9869 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| R/G | 0.9709 | likely_pathogenic | 0.9688 | pathogenic | -2.101 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.548388296 | None | None | N |
| R/H | 0.6267 | likely_pathogenic | 0.576 | pathogenic | -2.12 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| R/I | 0.9494 | likely_pathogenic | 0.9515 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| R/K | 0.6894 | likely_pathogenic | 0.6605 | pathogenic | -1.284 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/L | 0.92 | likely_pathogenic | 0.9215 | pathogenic | -0.878 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.509306177 | None | None | N |
| R/M | 0.9537 | likely_pathogenic | 0.9511 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/N | 0.9913 | likely_pathogenic | 0.9918 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.548895275 | None | None | N |
| R/Q | 0.4554 | ambiguous | 0.399 | ambiguous | -1.057 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.494845545 | None | None | N |
| R/S | 0.982 | likely_pathogenic | 0.9811 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/T | 0.9739 | likely_pathogenic | 0.9735 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| R/V | 0.958 | likely_pathogenic | 0.9556 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/W | 0.8459 | likely_pathogenic | 0.8356 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/Y | 0.9698 | likely_pathogenic | 0.9663 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.846 | 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.