Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5921 | 17986;17987;17988 | chr2:178730772;178730771;178730770 | chr2:179595499;179595498;179595497 |
| N2AB | 5604 | 17035;17036;17037 | chr2:178730772;178730771;178730770 | chr2:179595499;179595498;179595497 |
| N2A | 4677 | 14254;14255;14256 | chr2:178730772;178730771;178730770 | chr2:179595499;179595498;179595497 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs758858348  |
-1.923 | 0.999 | D | 0.655 | 0.748 | 0.564354818415 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 0 | 0 |
| F/L | rs758858348 |
-1.923 | 0.999 | D | 0.655 | 0.748 | 0.564354818415 | gnomAD-4.0.0 | 3.44378E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.61923E-06 | 1.17418E-05 | 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 | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -2.83 | Highly Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| F/C | 0.9887 | likely_pathogenic | 0.99 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.572505799 | None | None | N |
| F/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.807 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.742 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| F/G | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -3.144 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| F/H | 0.9946 | likely_pathogenic | 0.9956 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| F/I | 0.8938 | likely_pathogenic | 0.9182 | pathogenic | -1.847 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.499863927 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/L | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -1.847 | Destabilizing | 0.999 | D | 0.655 | neutral | D | 0.526405334 | None | None | N |
| F/M | 0.9751 | likely_pathogenic | 0.979 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/N | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| F/Q | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/R | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/S | 0.9973 | likely_pathogenic | 0.9978 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.57199882 | None | None | N |
| F/T | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/V | 0.9211 | likely_pathogenic | 0.9379 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.526961538 | None | None | N |
| F/W | 0.9653 | likely_pathogenic | 0.9669 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| F/Y | 0.8326 | likely_pathogenic | 0.8373 | pathogenic | -1.066 | Destabilizing | 0.999 | D | 0.589 | neutral | D | 0.56073142 | 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.