Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 943 | 3052;3053;3054 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
| N2AB | 943 | 3052;3053;3054 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
| N2A | 943 | 3052;3053;3054 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
| N2B | 897 | 2914;2915;2916 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
| Novex-1 | 897 | 2914;2915;2916 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
| Novex-2 | 897 | 2914;2915;2916 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
| Novex-3 | 943 | 3052;3053;3054 | chr2:178783734;178783733;178783732 | chr2:179648461;179648460;179648459 |
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/L | rs577379388  |
-0.732 | 1.0 | D | 0.79 | 0.865 | 0.871095129822 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs577379388 |
-0.732 | 1.0 | D | 0.79 | 0.865 | 0.871095129822 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs577379388 |
-0.732 | 1.0 | D | 0.79 | 0.865 | 0.871095129822 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/L | rs577379388 |
-0.732 | 1.0 | D | 0.79 | 0.865 | 0.871095129822 | gnomAD-4.0.0 | 2.03049E-06 | None | None | None | None | N | None | 3.49626E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7834 | likely_pathogenic | 0.8663 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.674 | neutral | D | 0.739008234 | None | None | N |
| P/C | 0.9919 | likely_pathogenic | 0.9962 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/E | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/F | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -1.414 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/G | 0.993 | likely_pathogenic | 0.9962 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9988 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/I | 0.9879 | likely_pathogenic | 0.9941 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/L | 0.9454 | likely_pathogenic | 0.9744 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.771723657 | None | None | N |
| P/M | 0.994 | likely_pathogenic | 0.9972 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/Q | 0.9952 | likely_pathogenic | 0.9977 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.771074638 | None | None | N |
| P/R | 0.9939 | likely_pathogenic | 0.9972 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.771074638 | None | None | N |
| P/S | 0.9805 | likely_pathogenic | 0.9905 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.737227535 | None | None | N |
| P/T | 0.9763 | likely_pathogenic | 0.9891 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.771074638 | None | None | N |
| P/V | 0.9537 | likely_pathogenic | 0.9761 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| P/Y | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.801 | 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.