Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9463 | 28612;28613;28614 | chr2:178710710;178710709;178710708 | chr2:179575437;179575436;179575435 |
| N2AB | 9146 | 27661;27662;27663 | chr2:178710710;178710709;178710708 | chr2:179575437;179575436;179575435 |
| N2A | 8219 | 24880;24881;24882 | chr2:178710710;178710709;178710708 | chr2:179575437;179575436;179575435 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs769166539  |
-0.204 | 0.884 | None | 0.37 | 0.516 | 0.650465148921 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs769166539 |
-0.204 | 0.884 | None | 0.37 | 0.516 | 0.650465148921 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs769166539 |
-0.204 | 0.884 | None | 0.37 | 0.516 | 0.650465148921 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | N | None | 2.41231E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs769166539 |
1.511 | 1.0 | None | 0.906 | 0.518 | 0.795741560664 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| D/Y | rs769166539 |
1.511 | 1.0 | None | 0.906 | 0.518 | 0.795741560664 | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85798E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.894 | likely_pathogenic | 0.9322 | pathogenic | 0.325 | Stabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| D/C | 0.9825 | likely_pathogenic | 0.9846 | pathogenic | 0.285 | Stabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| D/E | 0.8488 | likely_pathogenic | 0.8902 | pathogenic | -0.663 | Destabilizing | 0.996 | D | 0.632 | neutral | None | None | None | None | N |
| D/F | 0.978 | likely_pathogenic | 0.9857 | pathogenic | 1.042 | Stabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| D/G | 0.9238 | likely_pathogenic | 0.9501 | pathogenic | -0.126 | Destabilizing | 0.996 | D | 0.747 | deleterious | None | None | None | None | N |
| D/H | 0.9236 | likely_pathogenic | 0.9418 | pathogenic | 0.744 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| D/I | 0.9626 | likely_pathogenic | 0.9814 | pathogenic | 1.53 | Stabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| D/K | 0.9797 | likely_pathogenic | 0.9875 | pathogenic | 0.391 | Stabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| D/L | 0.9744 | likely_pathogenic | 0.984 | pathogenic | 1.53 | Stabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| D/M | 0.9863 | likely_pathogenic | 0.991 | pathogenic | 1.855 | Stabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| D/N | 0.6497 | likely_pathogenic | 0.7245 | pathogenic | -0.544 | Destabilizing | 0.884 | D | 0.37 | neutral | None | None | None | None | N |
| D/P | 0.9966 | likely_pathogenic | 0.9979 | pathogenic | 1.158 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/Q | 0.9631 | likely_pathogenic | 0.9782 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/R | 0.9832 | likely_pathogenic | 0.9906 | pathogenic | 0.435 | Stabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| D/S | 0.7936 | likely_pathogenic | 0.8551 | pathogenic | -0.743 | Destabilizing | 0.997 | D | 0.661 | neutral | None | None | None | None | N |
| D/T | 0.9372 | likely_pathogenic | 0.965 | pathogenic | -0.321 | Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| D/V | 0.9169 | likely_pathogenic | 0.9527 | pathogenic | 1.158 | Stabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| D/W | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | 1.164 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/Y | 0.88 | likely_pathogenic | 0.9215 | pathogenic | 1.341 | Stabilizing | 1.0 | D | 0.906 | 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.