Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30696 | 92311;92312;92313 | chr2:178549636;178549635;178549634 | chr2:179414363;179414362;179414361 |
| N2AB | 29055 | 87388;87389;87390 | chr2:178549636;178549635;178549634 | chr2:179414363;179414362;179414361 |
| N2A | 28128 | 84607;84608;84609 | chr2:178549636;178549635;178549634 | chr2:179414363;179414362;179414361 |
| N2B | 21631 | 65116;65117;65118 | chr2:178549636;178549635;178549634 | chr2:179414363;179414362;179414361 |
| Novex-1 | 21756 | 65491;65492;65493 | chr2:178549636;178549635;178549634 | chr2:179414363;179414362;179414361 |
| Novex-2 | 21823 | 65692;65693;65694 | chr2:178549636;178549635;178549634 | chr2:179414363;179414362;179414361 |
| 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/V | None | None | 1.0 | D | 0.715 | 0.687 | 0.663846892577 | gnomAD-4.0.0 | 2.05268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99494E-07 | 2.31906E-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 | 0.8156 | likely_pathogenic | 0.8153 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/D | 0.9951 | likely_pathogenic | 0.9954 | pathogenic | -3.054 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/E | 0.993 | likely_pathogenic | 0.9936 | pathogenic | -2.818 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.571155311 | None | None | N |
| A/F | 0.9831 | likely_pathogenic | 0.9863 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.2518 | likely_benign | 0.2302 | benign | -2.099 | Highly Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.504472282 | None | None | N |
| A/H | 0.9957 | likely_pathogenic | 0.9956 | pathogenic | -2.195 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/I | 0.9365 | likely_pathogenic | 0.9595 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/K | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -1.481 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/L | 0.897 | likely_pathogenic | 0.9124 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/M | 0.9307 | likely_pathogenic | 0.9466 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/N | 0.9852 | likely_pathogenic | 0.9852 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/P | 0.6513 | likely_pathogenic | 0.634 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.537339884 | None | None | N |
| A/Q | 0.9883 | likely_pathogenic | 0.988 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/R | 0.9938 | likely_pathogenic | 0.9934 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/S | 0.2984 | likely_benign | 0.3179 | benign | -2.341 | Highly Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.521536126 | None | None | N |
| A/T | 0.6461 | likely_pathogenic | 0.711 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.549413297 | None | None | N |
| A/V | 0.7345 | likely_pathogenic | 0.8013 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.557771089 | None | None | N |
| A/W | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/Y | 0.9943 | likely_pathogenic | 0.9947 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.879 | 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.