Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3268 | 10027;10028;10029 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
| N2AB | 3268 | 10027;10028;10029 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
| N2A | 3268 | 10027;10028;10029 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
| N2B | 3222 | 9889;9890;9891 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
| Novex-1 | 3222 | 9889;9890;9891 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
| Novex-2 | 3222 | 9889;9890;9891 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
| Novex-3 | 3268 | 10027;10028;10029 | chr2:178764713;178764712;178764711 | chr2:179629440;179629439;179629438 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs912372716  |
-1.939 | 1.0 | D | 0.834 | 0.703 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 1.63345E-04 |
| P/S | rs912372716 |
-1.939 | 1.0 | D | 0.834 | 0.703 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs912372716 |
-1.939 | 1.0 | D | 0.834 | 0.703 | None | gnomAD-4.0.0 | 4.39906E-05 | None | None | None | None | N | None | 1.33504E-05 | 0 | None | 0 | 0 | None | 0 | 6.58111E-04 | 5.50847E-05 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6063 | likely_pathogenic | 0.8365 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.624689831 | None | None | N |
| P/C | 0.975 | likely_pathogenic | 0.993 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/D | 0.9979 | likely_pathogenic | 0.9994 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/E | 0.9906 | likely_pathogenic | 0.9977 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/F | 0.9957 | likely_pathogenic | 0.9989 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/G | 0.9692 | likely_pathogenic | 0.9884 | pathogenic | -2.352 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/H | 0.9903 | likely_pathogenic | 0.998 | pathogenic | -2.064 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.808033727 | None | None | N |
| P/I | 0.9427 | likely_pathogenic | 0.9852 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/K | 0.9958 | likely_pathogenic | 0.999 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/L | 0.8117 | likely_pathogenic | 0.9565 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.652774244 | None | None | N |
| P/M | 0.9539 | likely_pathogenic | 0.9914 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/N | 0.994 | likely_pathogenic | 0.9985 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/Q | 0.978 | likely_pathogenic | 0.9959 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/R | 0.9892 | likely_pathogenic | 0.9971 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.807223806 | None | None | N |
| P/S | 0.9399 | likely_pathogenic | 0.9884 | pathogenic | -2.23 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.771500324 | None | None | N |
| P/T | 0.9013 | likely_pathogenic | 0.9799 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.750586891 | None | None | N |
| P/V | 0.8695 | likely_pathogenic | 0.9582 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/W | 0.999 | likely_pathogenic | 0.9998 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/Y | 0.997 | likely_pathogenic | 0.9993 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.839 | 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.