Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14399 | 43420;43421;43422 | chr2:178632936;178632935;178632934 | chr2:179497663;179497662;179497661 |
| N2AB | 12758 | 38497;38498;38499 | chr2:178632936;178632935;178632934 | chr2:179497663;179497662;179497661 |
| N2A | 11831 | 35716;35717;35718 | chr2:178632936;178632935;178632934 | chr2:179497663;179497662;179497661 |
| N2B | 5334 | 16225;16226;16227 | chr2:178632936;178632935;178632934 | chr2:179497663;179497662;179497661 |
| Novex-1 | 5459 | 16600;16601;16602 | chr2:178632936;178632935;178632934 | chr2:179497663;179497662;179497661 |
| Novex-2 | 5526 | 16801;16802;16803 | chr2:178632936;178632935;178632934 | chr2:179497663;179497662;179497661 |
| 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/G | None | None | 0.999 | D | 0.628 | 0.365 | 0.242244723065 | gnomAD-4.0.0 | 1.59371E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88388E-05 | 0 | 0 | 0 | 0 |
| A/P | None | None | 1.0 | D | 0.862 | 0.463 | 0.304435445954 | gnomAD-4.0.0 | 1.59362E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86171E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9003 | likely_pathogenic | 0.8461 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/D | 0.982 | likely_pathogenic | 0.9642 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.647730052 | None | None | N |
| A/E | 0.9758 | likely_pathogenic | 0.9642 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/F | 0.9795 | likely_pathogenic | 0.9713 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/G | 0.4178 | ambiguous | 0.3261 | benign | -1.255 | Destabilizing | 0.999 | D | 0.628 | neutral | D | 0.529341902 | None | None | N |
| A/H | 0.9916 | likely_pathogenic | 0.987 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/I | 0.9733 | likely_pathogenic | 0.9605 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/K | 0.989 | likely_pathogenic | 0.9848 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/L | 0.9271 | likely_pathogenic | 0.9061 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| A/M | 0.957 | likely_pathogenic | 0.9405 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/N | 0.9751 | likely_pathogenic | 0.9561 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/P | 0.9907 | likely_pathogenic | 0.9862 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.647869115 | None | None | N |
| A/Q | 0.9616 | likely_pathogenic | 0.9521 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/R | 0.9594 | likely_pathogenic | 0.9528 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| A/S | 0.3524 | ambiguous | 0.2767 | benign | -1.33 | Destabilizing | 0.999 | D | 0.662 | prob.neutral | D | 0.606564503 | None | None | N |
| A/T | 0.6496 | likely_pathogenic | 0.5215 | ambiguous | -1.212 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.551943724 | None | None | N |
| A/V | 0.8372 | likely_pathogenic | 0.7908 | pathogenic | -0.505 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.600971306 | None | None | N |
| A/W | 0.9977 | likely_pathogenic | 0.9968 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/Y | 0.992 | likely_pathogenic | 0.9878 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.865 | 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.