Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20278 | 61057;61058;61059 | chr2:178590893;178590892;178590891 | chr2:179455620;179455619;179455618 |
| N2AB | 18637 | 56134;56135;56136 | chr2:178590893;178590892;178590891 | chr2:179455620;179455619;179455618 |
| N2A | 17710 | 53353;53354;53355 | chr2:178590893;178590892;178590891 | chr2:179455620;179455619;179455618 |
| N2B | 11213 | 33862;33863;33864 | chr2:178590893;178590892;178590891 | chr2:179455620;179455619;179455618 |
| Novex-1 | 11338 | 34237;34238;34239 | chr2:178590893;178590892;178590891 | chr2:179455620;179455619;179455618 |
| Novex-2 | 11405 | 34438;34439;34440 | chr2:178590893;178590892;178590891 | chr2:179455620;179455619;179455618 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.884 | 0.434 | 0.576639666579 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| P/S | rs774144830  |
-1.902 | 1.0 | D | 0.857 | 0.418 | 0.432716982437 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.00449E-04 | 2.35E-05 | 0 |
| P/S | rs774144830 |
-1.902 | 1.0 | D | 0.857 | 0.418 | 0.432716982437 | gnomAD-4.0.0 | 1.9184E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74742E-04 | 0 | 5.40453E-06 | 0 | 3.31796E-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 | 0.6209 | likely_pathogenic | 0.6957 | pathogenic | -2.035 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.51243914 | None | None | N |
| P/C | 0.938 | likely_pathogenic | 0.9467 | pathogenic | -2.051 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/D | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/E | 0.9941 | likely_pathogenic | 0.9961 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/F | 0.9943 | likely_pathogenic | 0.9959 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| P/G | 0.976 | likely_pathogenic | 0.9804 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/H | 0.9928 | likely_pathogenic | 0.9949 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/I | 0.7557 | likely_pathogenic | 0.8246 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/K | 0.9962 | likely_pathogenic | 0.9974 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/L | 0.505 | ambiguous | 0.5923 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.884 | deleterious | N | 0.461034485 | None | None | N |
| P/M | 0.8955 | likely_pathogenic | 0.918 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/N | 0.9949 | likely_pathogenic | 0.9962 | pathogenic | -1.798 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/Q | 0.9888 | likely_pathogenic | 0.9927 | pathogenic | -1.747 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.54538242 | None | None | N |
| P/R | 0.9908 | likely_pathogenic | 0.9939 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.54538242 | None | None | N |
| P/S | 0.9711 | likely_pathogenic | 0.9798 | pathogenic | -2.428 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.533772626 | None | None | N |
| P/T | 0.8659 | likely_pathogenic | 0.9134 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.544875441 | None | None | N |
| P/V | 0.5989 | likely_pathogenic | 0.6862 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/W | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/Y | 0.997 | likely_pathogenic | 0.9979 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.902 | 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.