Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20801 | 62626;62627;62628 | chr2:178589324;178589323;178589322 | chr2:179454051;179454050;179454049 |
| N2AB | 19160 | 57703;57704;57705 | chr2:178589324;178589323;178589322 | chr2:179454051;179454050;179454049 |
| N2A | 18233 | 54922;54923;54924 | chr2:178589324;178589323;178589322 | chr2:179454051;179454050;179454049 |
| N2B | 11736 | 35431;35432;35433 | chr2:178589324;178589323;178589322 | chr2:179454051;179454050;179454049 |
| Novex-1 | 11861 | 35806;35807;35808 | chr2:178589324;178589323;178589322 | chr2:179454051;179454050;179454049 |
| Novex-2 | 11928 | 36007;36008;36009 | chr2:178589324;178589323;178589322 | chr2:179454051;179454050;179454049 |
| 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 | 0.939 | D | 0.639 | 0.631 | 0.750989448909 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| V/I | None | None | 0.046 | N | 0.205 | 0.208 | 0.510230903827 | gnomAD-4.0.0 | 6.84629E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52309E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.76 | D | 0.563 | 0.492 | 0.636647316547 | gnomAD-4.0.0 | 6.84629E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99931E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.5769 | likely_pathogenic | 0.5367 | ambiguous | -1.284 | Destabilizing | 0.939 | D | 0.639 | neutral | D | 0.546458007 | None | None | N |
| V/C | 0.9211 | likely_pathogenic | 0.9299 | pathogenic | -1.0 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| V/D | 0.9908 | likely_pathogenic | 0.9892 | pathogenic | -0.848 | Destabilizing | 0.997 | D | 0.848 | deleterious | D | 0.610383649 | None | None | N |
| V/E | 0.9755 | likely_pathogenic | 0.9743 | pathogenic | -0.838 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | N |
| V/F | 0.6522 | likely_pathogenic | 0.6788 | pathogenic | -0.945 | Destabilizing | 0.982 | D | 0.781 | deleterious | D | 0.553453307 | None | None | N |
| V/G | 0.8636 | likely_pathogenic | 0.8322 | pathogenic | -1.614 | Destabilizing | 0.997 | D | 0.848 | deleterious | D | 0.594364288 | None | None | N |
| V/H | 0.9916 | likely_pathogenic | 0.9924 | pathogenic | -1.175 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| V/I | 0.0783 | likely_benign | 0.0841 | benign | -0.484 | Destabilizing | 0.046 | N | 0.205 | neutral | N | 0.430594111 | None | None | N |
| V/K | 0.9844 | likely_pathogenic | 0.9834 | pathogenic | -1.072 | Destabilizing | 0.993 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.4801 | ambiguous | 0.5122 | ambiguous | -0.484 | Destabilizing | 0.76 | D | 0.563 | neutral | D | 0.570407855 | None | None | N |
| V/M | 0.4153 | ambiguous | 0.4627 | ambiguous | -0.476 | Destabilizing | 0.986 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/N | 0.9665 | likely_pathogenic | 0.964 | pathogenic | -0.874 | Destabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
| V/P | 0.9629 | likely_pathogenic | 0.9603 | pathogenic | -0.714 | Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| V/Q | 0.974 | likely_pathogenic | 0.9742 | pathogenic | -0.987 | Destabilizing | 0.998 | D | 0.869 | deleterious | None | None | None | None | N |
| V/R | 0.9791 | likely_pathogenic | 0.9767 | pathogenic | -0.651 | Destabilizing | 0.998 | D | 0.865 | deleterious | None | None | None | None | N |
| V/S | 0.8645 | likely_pathogenic | 0.8439 | pathogenic | -1.439 | Destabilizing | 0.993 | D | 0.855 | deleterious | None | None | None | None | N |
| V/T | 0.5418 | ambiguous | 0.5429 | ambiguous | -1.304 | Destabilizing | 0.953 | D | 0.743 | deleterious | None | None | None | None | N |
| V/W | 0.989 | likely_pathogenic | 0.9908 | pathogenic | -1.13 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Y | 0.9598 | likely_pathogenic | 0.9652 | pathogenic | -0.82 | Destabilizing | 0.998 | D | 0.775 | 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.