Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4842 | 14749;14750;14751 | chr2:178735922;178735921;178735920 | chr2:179600649;179600648;179600647 |
| N2AB | 4525 | 13798;13799;13800 | chr2:178735922;178735921;178735920 | chr2:179600649;179600648;179600647 |
| N2A | 3598 | 11017;11018;11019 | chr2:178735922;178735921;178735920 | chr2:179600649;179600648;179600647 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1347409697  |
None | None | N | None | 0.204 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/G | rs1347409697 |
None | None | N | None | 0.204 | None | gnomAD-4.0.0 | 5.1235E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57089E-06 | 0 | 0 |
| R/K | rs2742347 |
-0.006 | None | N | 0.159 | 0.049 | None | gnomAD-2.1.1 | 1.00529E-01 | None | None | None | None | I | None | 2.17217E-01 | 2.51202E-01 | None | 7.19118E-02 | 2.07162E-01 | None | 4.21541E-02 | None | 5.31974E-02 | 4.74385E-02 | 7.89326E-02 |
| R/K | rs2742347 |
-0.006 | None | N | 0.159 | 0.049 | None | gnomAD-3.1.2 | 1.11237E-01 | None | None | None | None | I | None | 2.15318E-01 | 1.61836E-01 | 4.82456E-02 | 7.11816E-02 | 1.88902E-01 | None | 5.11128E-02 | 3.16456E-02 | 4.81196E-02 | 4.83002E-02 | 1.00478E-01 |
| R/K | rs2742347 |
-0.006 | None | N | 0.159 | 0.049 | None | 1000 genomes | 1.44768E-01 | None | None | None | None | I | None | 2.284E-01 | 1.916E-01 | None | None | 1.935E-01 | 5.17E-02 | None | None | None | 4.4E-02 | None |
| R/K | rs2742347 |
-0.006 | None | N | 0.159 | 0.049 | None | gnomAD-4.0.0 | 6.69259E-02 | None | None | None | None | I | None | 2.1809E-01 | 2.21052E-01 | None | 7.19305E-02 | 1.89543E-01 | None | 5.40921E-02 | 3.51485E-02 | 4.71242E-02 | 4.27436E-02 | 7.2869E-02 |
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 | 0.2236 | likely_benign | 0.1837 | benign | -0.373 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/C | 0.2032 | likely_benign | 0.1754 | benign | -0.412 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/D | 0.4527 | ambiguous | 0.3525 | ambiguous | -0.007 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/E | 0.2005 | likely_benign | 0.1699 | benign | 0.051 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/F | 0.3835 | ambiguous | 0.31 | benign | -0.609 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/G | 0.1812 | likely_benign | 0.1416 | benign | -0.572 | Destabilizing | None | None | None | None | N | 0.514347592 | None | None | I |
| R/H | 0.107 | likely_benign | 0.0957 | benign | -0.926 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/I | 0.134 | likely_benign | 0.1206 | benign | 0.121 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/K | 0.0617 | likely_benign | 0.0593 | benign | -0.332 | Destabilizing | None | N | 0.159 | neutral | N | 0.394537178 | None | None | I |
| R/L | 0.1501 | likely_benign | 0.13 | benign | 0.121 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/M | 0.1293 | likely_benign | 0.1132 | benign | -0.114 | Destabilizing | None | None | None | None | N | 0.513204034 | None | None | I |
| R/N | 0.2626 | likely_benign | 0.204 | benign | 0.082 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/P | 0.6964 | likely_pathogenic | 0.6181 | pathogenic | -0.024 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/Q | 0.0906 | likely_benign | 0.0823 | benign | -0.148 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/S | 0.256 | likely_benign | 0.1995 | benign | -0.495 | Destabilizing | None | None | None | None | N | 0.474333883 | None | None | I |
| R/T | 0.1236 | likely_benign | 0.1088 | benign | -0.3 | Destabilizing | None | None | None | None | N | 0.44264228 | None | None | I |
| R/V | 0.1868 | likely_benign | 0.1609 | benign | -0.024 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/W | 0.2006 | likely_benign | 0.1613 | benign | -0.51 | Destabilizing | None | None | None | None | D | 0.594890598 | None | None | I |
| R/Y | 0.3126 | likely_benign | 0.2413 | benign | -0.128 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.