Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17489 | 52690;52691;52692 | chr2:178608418;178608417;178608416 | chr2:179473145;179473144;179473143 |
| N2AB | 15848 | 47767;47768;47769 | chr2:178608418;178608417;178608416 | chr2:179473145;179473144;179473143 |
| N2A | 14921 | 44986;44987;44988 | chr2:178608418;178608417;178608416 | chr2:179473145;179473144;179473143 |
| N2B | 8424 | 25495;25496;25497 | chr2:178608418;178608417;178608416 | chr2:179473145;179473144;179473143 |
| Novex-1 | 8549 | 25870;25871;25872 | chr2:178608418;178608417;178608416 | chr2:179473145;179473144;179473143 |
| Novex-2 | 8616 | 26071;26072;26073 | chr2:178608418;178608417;178608416 | chr2:179473145;179473144;179473143 |
| 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 | rs1337777235  |
None | 0.999 | N | 0.631 | 0.483 | 0.649280160577 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1337777235 |
None | 0.999 | N | 0.631 | 0.483 | 0.649280160577 | gnomAD-4.0.0 | 6.57938E-06 | None | None | None | None | N | None | 2.41441E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1337777235 |
None | 1.0 | N | 0.875 | 0.592 | 0.905535781664 | gnomAD-4.0.0 | 1.60143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87426E-06 | 0 | 0 |
| V/M | rs1474043001 |
None | 1.0 | N | 0.723 | 0.295 | 0.487064551306 | gnomAD-4.0.0 | 1.37218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01058E-07 | 0 | 1.66135E-05 |
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 | 0.9018 | likely_pathogenic | 0.906 | pathogenic | -2.329 | Highly Destabilizing | 0.999 | D | 0.631 | neutral | N | 0.484476744 | None | None | N |
| V/C | 0.9544 | likely_pathogenic | 0.9616 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| V/D | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.382 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| V/E | 0.9947 | likely_pathogenic | 0.9948 | pathogenic | -3.055 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.511988748 | None | None | N |
| V/F | 0.9198 | likely_pathogenic | 0.9161 | pathogenic | -1.4 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/G | 0.9511 | likely_pathogenic | 0.9591 | pathogenic | -2.938 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.511988748 | None | None | N |
| V/H | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.879 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/I | 0.108 | likely_benign | 0.0987 | benign | -0.551 | Destabilizing | 0.998 | D | 0.531 | neutral | None | None | None | None | N |
| V/K | 0.996 | likely_pathogenic | 0.9959 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/L | 0.4178 | ambiguous | 0.3949 | ambiguous | -0.551 | Destabilizing | 0.997 | D | 0.641 | neutral | N | 0.369109564 | None | None | N |
| V/M | 0.7815 | likely_pathogenic | 0.7591 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.473120439 | None | None | N |
| V/N | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -2.769 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/P | 0.9933 | likely_pathogenic | 0.9938 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/Q | 0.9932 | likely_pathogenic | 0.9933 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| V/R | 0.9921 | likely_pathogenic | 0.9925 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/S | 0.9865 | likely_pathogenic | 0.9878 | pathogenic | -3.245 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/T | 0.9547 | likely_pathogenic | 0.9573 | pathogenic | -2.757 | Highly Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| V/W | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/Y | 0.9944 | likely_pathogenic | 0.9945 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.759 | 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.