Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8266 | 25021;25022;25023 | chr2:178718210;178718209;178718208 | chr2:179582937;179582936;179582935 |
| N2AB | 7949 | 24070;24071;24072 | chr2:178718210;178718209;178718208 | chr2:179582937;179582936;179582935 |
| N2A | 7022 | 21289;21290;21291 | chr2:178718210;178718209;178718208 | chr2:179582937;179582936;179582935 |
| 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/Y | rs768252647  |
-1.033 | 0.999 | D | 0.657 | 0.623 | 0.851514812675 | gnomAD-2.1.1 | 8.33E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| F/Y | rs768252647 |
-1.033 | 0.999 | D | 0.657 | 0.623 | 0.851514812675 | gnomAD-4.0.0 | 1.78772E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.2172E-05 | 0 | 2.5959E-05 | 0 | 3.05045E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9875 | likely_pathogenic | 0.9912 | pathogenic | -2.546 | Highly Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| F/C | 0.9622 | likely_pathogenic | 0.9748 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.568884948 | None | None | N |
| F/D | 0.9972 | likely_pathogenic | 0.9982 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| F/E | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/G | 0.9952 | likely_pathogenic | 0.9966 | pathogenic | -2.893 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/H | 0.9854 | likely_pathogenic | 0.9903 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| F/I | 0.6139 | likely_pathogenic | 0.6285 | pathogenic | -1.469 | Destabilizing | 0.902 | D | 0.462 | neutral | D | 0.535985206 | None | None | N |
| F/K | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| F/L | 0.9656 | likely_pathogenic | 0.9615 | pathogenic | -1.469 | Destabilizing | 0.984 | D | 0.629 | neutral | N | 0.513403187 | None | None | N |
| F/M | 0.9115 | likely_pathogenic | 0.9147 | pathogenic | -1.034 | Destabilizing | 0.996 | D | 0.693 | prob.neutral | None | None | None | None | N |
| F/N | 0.9923 | likely_pathogenic | 0.9946 | pathogenic | -1.42 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/P | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -1.827 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/Q | 0.9953 | likely_pathogenic | 0.9967 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/R | 0.9921 | likely_pathogenic | 0.9946 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| F/S | 0.9881 | likely_pathogenic | 0.9917 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.55685708 | None | None | N |
| F/T | 0.9873 | likely_pathogenic | 0.991 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/V | 0.7297 | likely_pathogenic | 0.7536 | pathogenic | -1.827 | Destabilizing | 0.991 | D | 0.694 | prob.neutral | N | 0.513465639 | None | None | N |
| F/W | 0.928 | likely_pathogenic | 0.9391 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| F/Y | 0.6969 | likely_pathogenic | 0.7482 | pathogenic | -0.727 | Destabilizing | 0.999 | D | 0.657 | neutral | D | 0.568631459 | 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.