Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23916 | 71971;71972;71973 | chr2:178574386;178574385;178574384 | chr2:179439113;179439112;179439111 |
| N2AB | 22275 | 67048;67049;67050 | chr2:178574386;178574385;178574384 | chr2:179439113;179439112;179439111 |
| N2A | 21348 | 64267;64268;64269 | chr2:178574386;178574385;178574384 | chr2:179439113;179439112;179439111 |
| N2B | 14851 | 44776;44777;44778 | chr2:178574386;178574385;178574384 | chr2:179439113;179439112;179439111 |
| Novex-1 | 14976 | 45151;45152;45153 | chr2:178574386;178574385;178574384 | chr2:179439113;179439112;179439111 |
| Novex-2 | 15043 | 45352;45353;45354 | chr2:178574386;178574385;178574384 | chr2:179439113;179439112;179439111 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs1283305854  |
0.36 | 0.999 | N | 0.745 | 0.444 | 0.559195274915 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| S/L | rs1283305854 |
0.36 | 0.999 | N | 0.745 | 0.444 | 0.559195274915 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/L | rs1283305854 |
0.36 | 0.999 | N | 0.745 | 0.444 | 0.559195274915 | gnomAD-4.0.0 | 5.12584E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57529E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1907 | likely_benign | 0.254 | benign | -0.592 | Destabilizing | 0.994 | D | 0.604 | neutral | N | 0.489265094 | None | None | N |
| S/C | 0.1457 | likely_benign | 0.1809 | benign | -0.488 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| S/D | 0.9762 | likely_pathogenic | 0.981 | pathogenic | -0.868 | Destabilizing | 0.998 | D | 0.575 | neutral | None | None | None | None | N |
| S/E | 0.9898 | likely_pathogenic | 0.9915 | pathogenic | -0.778 | Destabilizing | 0.998 | D | 0.583 | neutral | None | None | None | None | N |
| S/F | 0.9366 | likely_pathogenic | 0.9512 | pathogenic | -0.41 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| S/G | 0.2156 | likely_benign | 0.2671 | benign | -0.933 | Destabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| S/H | 0.975 | likely_pathogenic | 0.9755 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| S/I | 0.8323 | likely_pathogenic | 0.8926 | pathogenic | 0.233 | Stabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| S/K | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -0.747 | Destabilizing | 0.998 | D | 0.576 | neutral | None | None | None | None | N |
| S/L | 0.5084 | ambiguous | 0.6021 | pathogenic | 0.233 | Stabilizing | 0.999 | D | 0.745 | deleterious | N | 0.491111519 | None | None | N |
| S/M | 0.6802 | likely_pathogenic | 0.7534 | pathogenic | 0.235 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| S/N | 0.8527 | likely_pathogenic | 0.8823 | pathogenic | -0.961 | Destabilizing | 0.998 | D | 0.601 | neutral | None | None | None | None | N |
| S/P | 0.9825 | likely_pathogenic | 0.9839 | pathogenic | -0.006 | Destabilizing | 0.999 | D | 0.825 | deleterious | N | 0.517537567 | None | None | N |
| S/Q | 0.9829 | likely_pathogenic | 0.9845 | pathogenic | -0.894 | Destabilizing | 0.999 | D | 0.792 | deleterious | None | None | None | None | N |
| S/R | 0.9948 | likely_pathogenic | 0.9953 | pathogenic | -0.906 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| S/T | 0.1306 | likely_benign | 0.1589 | benign | -0.757 | Destabilizing | 0.997 | D | 0.6 | neutral | N | 0.494041717 | None | None | N |
| S/V | 0.6514 | likely_pathogenic | 0.75 | pathogenic | -0.006 | Destabilizing | 0.999 | D | 0.846 | deleterious | None | None | None | None | N |
| S/W | 0.9803 | likely_pathogenic | 0.9792 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| S/Y | 0.9558 | likely_pathogenic | 0.9622 | pathogenic | -0.234 | Destabilizing | 0.999 | D | 0.881 | 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.