Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22453 | 67582;67583;67584 | chr2:178579840;178579839;178579838 | chr2:179444567;179444566;179444565 |
| N2AB | 20812 | 62659;62660;62661 | chr2:178579840;178579839;178579838 | chr2:179444567;179444566;179444565 |
| N2A | 19885 | 59878;59879;59880 | chr2:178579840;178579839;178579838 | chr2:179444567;179444566;179444565 |
| N2B | 13388 | 40387;40388;40389 | chr2:178579840;178579839;178579838 | chr2:179444567;179444566;179444565 |
| Novex-1 | 13513 | 40762;40763;40764 | chr2:178579840;178579839;178579838 | chr2:179444567;179444566;179444565 |
| Novex-2 | 13580 | 40963;40964;40965 | chr2:178579840;178579839;178579838 | chr2:179444567;179444566;179444565 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs373706642  |
-0.416 | 1.0 | N | 0.827 | 0.537 | 0.543254643676 | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.17E-05 | 0 |
| G/R | rs373706642 |
-0.416 | 1.0 | N | 0.827 | 0.537 | 0.543254643676 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs373706642 |
-0.416 | 1.0 | N | 0.827 | 0.537 | 0.543254643676 | gnomAD-4.0.0 | 6.41399E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19766E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2421 | likely_benign | 0.232 | benign | -0.736 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | N | 0.48268541 | None | None | N |
| G/C | 0.4651 | ambiguous | 0.4213 | ambiguous | -1.327 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/D | 0.5305 | ambiguous | 0.5488 | ambiguous | -1.56 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/E | 0.4868 | ambiguous | 0.4812 | ambiguous | -1.635 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.514018848 | None | None | N |
| G/F | 0.8255 | likely_pathogenic | 0.8187 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/H | 0.8089 | likely_pathogenic | 0.7823 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/I | 0.7374 | likely_pathogenic | 0.6987 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.8205 | likely_pathogenic | 0.8023 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/L | 0.6239 | likely_pathogenic | 0.5755 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.7687 | likely_pathogenic | 0.7308 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.6635 | likely_pathogenic | 0.6333 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| G/P | 0.9703 | likely_pathogenic | 0.9679 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/Q | 0.6804 | likely_pathogenic | 0.6478 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/R | 0.7264 | likely_pathogenic | 0.7031 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.504272385 | None | None | N |
| G/S | 0.1942 | likely_benign | 0.1756 | benign | -1.121 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| G/T | 0.4525 | ambiguous | 0.4152 | ambiguous | -1.129 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/V | 0.598 | likely_pathogenic | 0.5643 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.516300254 | None | None | N |
| G/W | 0.7732 | likely_pathogenic | 0.7577 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/Y | 0.753 | likely_pathogenic | 0.7385 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.813 | 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.