Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1763 | 5512;5513;5514 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
| N2AB | 1763 | 5512;5513;5514 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
| N2A | 1763 | 5512;5513;5514 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
| N2B | 1717 | 5374;5375;5376 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
| Novex-1 | 1717 | 5374;5375;5376 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
| Novex-2 | 1717 | 5374;5375;5376 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
| Novex-3 | 1763 | 5512;5513;5514 | chr2:178776577;178776576;178776575 | chr2:179641304;179641303;179641302 |
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/E | rs1325498080  |
-0.526 | 1.0 | N | 0.506 | 0.31 | 0.243398259712 | gnomAD-2.1.1 | 7.98E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs1325498080 |
-0.526 | 1.0 | N | 0.506 | 0.31 | 0.243398259712 | gnomAD-4.0.0 | 6.36653E-06 | None | None | None | None | N | None | 0 | 9.14746E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7724 | likely_pathogenic | 0.7562 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.529983683 | None | None | N |
| D/C | 0.9837 | likely_pathogenic | 0.9849 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/E | 0.597 | likely_pathogenic | 0.5736 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.506 | neutral | N | 0.504953207 | None | None | N |
| D/F | 0.9638 | likely_pathogenic | 0.963 | pathogenic | -0.097 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| D/G | 0.8395 | likely_pathogenic | 0.8416 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | D | 0.677174999 | None | None | N |
| D/H | 0.8271 | likely_pathogenic | 0.8006 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.497868613 | None | None | N |
| D/I | 0.9165 | likely_pathogenic | 0.9192 | pathogenic | 0.694 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| D/K | 0.952 | likely_pathogenic | 0.9463 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| D/L | 0.9095 | likely_pathogenic | 0.9112 | pathogenic | 0.694 | Stabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| D/M | 0.976 | likely_pathogenic | 0.9744 | pathogenic | 1.25 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/N | 0.4103 | ambiguous | 0.3997 | ambiguous | -1.187 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.494038234 | None | None | N |
| D/P | 0.995 | likely_pathogenic | 0.9949 | pathogenic | 0.329 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/Q | 0.8797 | likely_pathogenic | 0.8683 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| D/R | 0.93 | likely_pathogenic | 0.9216 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/S | 0.5197 | ambiguous | 0.5112 | ambiguous | -1.622 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/T | 0.8007 | likely_pathogenic | 0.7985 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/V | 0.8036 | likely_pathogenic | 0.8109 | pathogenic | 0.329 | Stabilizing | 1.0 | D | 0.791 | deleterious | N | 0.501598649 | None | None | N |
| D/W | 0.9934 | likely_pathogenic | 0.9916 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/Y | 0.7975 | likely_pathogenic | 0.7866 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.812 | deleterious | D | 0.556594979 | 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.