Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26065 | 78418;78419;78420 | chr2:178567939;178567938;178567937 | chr2:179432666;179432665;179432664 |
| N2AB | 24424 | 73495;73496;73497 | chr2:178567939;178567938;178567937 | chr2:179432666;179432665;179432664 |
| N2A | 23497 | 70714;70715;70716 | chr2:178567939;178567938;178567937 | chr2:179432666;179432665;179432664 |
| N2B | 17000 | 51223;51224;51225 | chr2:178567939;178567938;178567937 | chr2:179432666;179432665;179432664 |
| Novex-1 | 17125 | 51598;51599;51600 | chr2:178567939;178567938;178567937 | chr2:179432666;179432665;179432664 |
| Novex-2 | 17192 | 51799;51800;51801 | chr2:178567939;178567938;178567937 | chr2:179432666;179432665;179432664 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | D | 0.665 | 0.813 | 0.811439811116 | gnomAD-4.0.0 | 2.05289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47842E-05 | 0 |
| V/G | rs931947649  |
-3.533 | 1.0 | D | 0.891 | 0.888 | 0.915630993598 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/G | rs931947649 |
-3.533 | 1.0 | D | 0.891 | 0.888 | 0.915630993598 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs931947649 |
-3.533 | 1.0 | D | 0.891 | 0.888 | 0.915630993598 | gnomAD-4.0.0 | 3.71928E-06 | None | None | None | None | N | None | 0 | 1.66806E-05 | None | 0 | 0 | None | 0 | 0 | 2.54329E-06 | 0 | 3.2039E-05 |
| V/M | rs1371536406 |
-1.466 | 1.0 | D | 0.807 | 0.684 | 0.810432915247 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/M | rs1371536406 |
-1.466 | 1.0 | D | 0.807 | 0.684 | 0.810432915247 | gnomAD-4.0.0 | 4.7901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39748E-06 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.725 | likely_pathogenic | 0.7243 | pathogenic | -2.706 | Highly Destabilizing | 0.999 | D | 0.665 | neutral | D | 0.550504432 | None | None | N |
| V/C | 0.9402 | likely_pathogenic | 0.9361 | pathogenic | -1.888 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| V/D | 0.998 | likely_pathogenic | 0.9986 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/E | 0.9954 | likely_pathogenic | 0.9969 | pathogenic | -2.95 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.646896015 | None | None | N |
| V/F | 0.972 | likely_pathogenic | 0.9734 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/G | 0.8905 | likely_pathogenic | 0.913 | pathogenic | -3.256 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | D | 0.646896015 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -2.883 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| V/I | 0.1502 | likely_benign | 0.14 | benign | -1.074 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| V/K | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/L | 0.8627 | likely_pathogenic | 0.8661 | pathogenic | -1.074 | Destabilizing | 0.997 | D | 0.685 | prob.neutral | N | 0.521760979 | None | None | N |
| V/M | 0.8964 | likely_pathogenic | 0.906 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.553720436 | None | None | N |
| V/N | 0.9886 | likely_pathogenic | 0.9924 | pathogenic | -2.581 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/P | 0.9962 | likely_pathogenic | 0.997 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/Q | 0.9953 | likely_pathogenic | 0.9964 | pathogenic | -2.228 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/R | 0.9941 | likely_pathogenic | 0.9954 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| V/S | 0.9196 | likely_pathogenic | 0.9375 | pathogenic | -3.049 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/T | 0.7606 | likely_pathogenic | 0.8249 | pathogenic | -2.605 | Highly Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| V/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/Y | 0.997 | likely_pathogenic | 0.9972 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.834 | 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.