Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2639 | 8140;8141;8142 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
| N2AB | 2639 | 8140;8141;8142 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
| N2A | 2639 | 8140;8141;8142 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
| N2B | 2593 | 8002;8003;8004 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
| Novex-1 | 2593 | 8002;8003;8004 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
| Novex-2 | 2593 | 8002;8003;8004 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
| Novex-3 | 2639 | 8140;8141;8142 | chr2:178771412;178771411;178771410 | chr2:179636139;179636138;179636137 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs794729580  |
None | 0.999 | D | 0.875 | 0.796 | 0.789584032943 | gnomAD-4.0.0 | 2.05242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69814E-06 | 0 | 0 |
| F/S | None | None | 0.984 | D | 0.833 | 0.827 | 0.805150415081 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52029E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9864 | likely_pathogenic | 0.9808 | pathogenic | -2.207 | Highly Destabilizing | 0.919 | D | 0.78 | deleterious | None | None | None | None | N |
| F/C | 0.9666 | likely_pathogenic | 0.9559 | pathogenic | -1.031 | Destabilizing | 0.999 | D | 0.875 | deleterious | D | 0.725266306 | None | None | N |
| F/D | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -3.027 | Highly Destabilizing | 0.996 | D | 0.887 | deleterious | None | None | None | None | N |
| F/E | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -2.764 | Highly Destabilizing | 0.996 | D | 0.883 | deleterious | None | None | None | None | N |
| F/G | 0.9955 | likely_pathogenic | 0.9934 | pathogenic | -2.69 | Highly Destabilizing | 0.988 | D | 0.846 | deleterious | None | None | None | None | N |
| F/H | 0.9947 | likely_pathogenic | 0.9915 | pathogenic | -1.875 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| F/I | 0.7405 | likely_pathogenic | 0.7066 | pathogenic | -0.619 | Destabilizing | 0.811 | D | 0.65 | neutral | D | 0.581563209 | None | None | N |
| F/K | 0.9989 | likely_pathogenic | 0.9979 | pathogenic | -1.702 | Destabilizing | 0.988 | D | 0.865 | deleterious | None | None | None | None | N |
| F/L | 0.8584 | likely_pathogenic | 0.8455 | pathogenic | -0.619 | Destabilizing | 0.011 | N | 0.309 | neutral | N | 0.437988954 | None | None | N |
| F/M | 0.8124 | likely_pathogenic | 0.7963 | pathogenic | -0.404 | Destabilizing | 0.507 | D | 0.474 | neutral | None | None | None | None | N |
| F/N | 0.998 | likely_pathogenic | 0.9969 | pathogenic | -2.425 | Highly Destabilizing | 0.996 | D | 0.884 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.163 | Destabilizing | 0.996 | D | 0.884 | deleterious | None | None | None | None | N |
| F/Q | 0.998 | likely_pathogenic | 0.9966 | pathogenic | -2.146 | Highly Destabilizing | 0.988 | D | 0.885 | deleterious | None | None | None | None | N |
| F/R | 0.9965 | likely_pathogenic | 0.9942 | pathogenic | -1.763 | Destabilizing | 0.988 | D | 0.888 | deleterious | None | None | None | None | N |
| F/S | 0.9939 | likely_pathogenic | 0.9904 | pathogenic | -2.85 | Highly Destabilizing | 0.984 | D | 0.833 | deleterious | D | 0.725266306 | None | None | N |
| F/T | 0.9922 | likely_pathogenic | 0.9883 | pathogenic | -2.454 | Highly Destabilizing | 0.988 | D | 0.825 | deleterious | None | None | None | None | N |
| F/V | 0.8457 | likely_pathogenic | 0.8161 | pathogenic | -1.163 | Destabilizing | 0.64 | D | 0.686 | prob.neutral | D | 0.618621867 | None | None | N |
| F/W | 0.9082 | likely_pathogenic | 0.8848 | pathogenic | -0.005 | Destabilizing | 0.999 | D | 0.688 | prob.neutral | None | None | None | None | N |
| F/Y | 0.7388 | likely_pathogenic | 0.7131 | pathogenic | -0.403 | Destabilizing | 0.946 | D | 0.645 | neutral | D | 0.686839277 | 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.