Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28979 | 87160;87161;87162 | chr2:178558524;178558523;178558522 | chr2:179423251;179423250;179423249 |
| N2AB | 27338 | 82237;82238;82239 | chr2:178558524;178558523;178558522 | chr2:179423251;179423250;179423249 |
| N2A | 26411 | 79456;79457;79458 | chr2:178558524;178558523;178558522 | chr2:179423251;179423250;179423249 |
| N2B | 19914 | 59965;59966;59967 | chr2:178558524;178558523;178558522 | chr2:179423251;179423250;179423249 |
| Novex-1 | 20039 | 60340;60341;60342 | chr2:178558524;178558523;178558522 | chr2:179423251;179423250;179423249 |
| Novex-2 | 20106 | 60541;60542;60543 | chr2:178558524;178558523;178558522 | chr2:179423251;179423250;179423249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1702361151  |
None | 0.675 | D | 0.603 | 0.478 | 0.75485893091 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| V/F | None | None | 0.972 | D | 0.767 | 0.432 | 0.80342950347 | gnomAD-4.0.0 | 6.84219E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 0 | 0 |
| V/I | rs201687390 |
-0.799 | 0.014 | N | 0.247 | 0.035 | None | gnomAD-2.1.1 | 2.00164E-04 | None | None | None | None | N | None | 1.23967E-04 | 1.13199E-04 | None | 9.67E-05 | 1.90466E-03 | None | 9.81E-05 | None | 0 | 5.48E-05 | 1.40687E-04 |
| V/I | rs201687390 |
-0.799 | 0.014 | N | 0.247 | 0.035 | None | gnomAD-3.1.2 | 1.31458E-04 | None | None | None | None | N | None | 1.20662E-04 | 1.31096E-04 | 0 | 0 | 1.15652E-03 | None | 0 | 0 | 7.35E-05 | 4.13736E-04 | 0 |
| V/I | rs201687390 |
-0.799 | 0.014 | N | 0.247 | 0.035 | None | gnomAD-4.0.0 | 1.40054E-04 | None | None | None | None | N | None | 1.46839E-04 | 1.33378E-04 | None | 3.37838E-05 | 8.7007E-04 | None | 0 | 1.6442E-04 | 1.16968E-04 | 1.86637E-04 | 1.76118E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6617 | likely_pathogenic | 0.6063 | pathogenic | -2.655 | Highly Destabilizing | 0.675 | D | 0.603 | neutral | D | 0.526500103 | None | None | N |
| V/C | 0.9363 | likely_pathogenic | 0.9199 | pathogenic | -2.226 | Highly Destabilizing | 0.996 | D | 0.753 | deleterious | None | None | None | None | N |
| V/D | 0.9958 | likely_pathogenic | 0.9933 | pathogenic | -3.697 | Highly Destabilizing | 0.999 | D | 0.896 | deleterious | D | 0.545364827 | None | None | N |
| V/E | 0.9846 | likely_pathogenic | 0.9785 | pathogenic | -3.411 | Highly Destabilizing | 0.996 | D | 0.869 | deleterious | None | None | None | None | N |
| V/F | 0.5795 | likely_pathogenic | 0.5514 | ambiguous | -1.524 | Destabilizing | 0.972 | D | 0.767 | deleterious | D | 0.545111337 | None | None | N |
| V/G | 0.9158 | likely_pathogenic | 0.8896 | pathogenic | -3.219 | Highly Destabilizing | 0.98 | D | 0.889 | deleterious | D | 0.545364827 | None | None | N |
| V/H | 0.9938 | likely_pathogenic | 0.9912 | pathogenic | -3.008 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.0626 | likely_benign | 0.0606 | benign | -1.008 | Destabilizing | 0.014 | N | 0.247 | neutral | N | 0.431366823 | None | None | N |
| V/K | 0.9873 | likely_pathogenic | 0.983 | pathogenic | -2.364 | Highly Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | N |
| V/L | 0.2286 | likely_benign | 0.1862 | benign | -1.008 | Destabilizing | 0.003 | N | 0.355 | neutral | N | 0.509601107 | None | None | N |
| V/M | 0.3126 | likely_benign | 0.2944 | benign | -1.173 | Destabilizing | 0.928 | D | 0.65 | neutral | None | None | None | None | N |
| V/N | 0.9854 | likely_pathogenic | 0.9766 | pathogenic | -2.949 | Highly Destabilizing | 0.996 | D | 0.9 | deleterious | None | None | None | None | N |
| V/P | 0.9805 | likely_pathogenic | 0.9738 | pathogenic | -1.541 | Destabilizing | 0.996 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Q | 0.9799 | likely_pathogenic | 0.9732 | pathogenic | -2.668 | Highly Destabilizing | 0.999 | D | 0.889 | deleterious | None | None | None | None | N |
| V/R | 0.9797 | likely_pathogenic | 0.9713 | pathogenic | -2.245 | Highly Destabilizing | 0.999 | D | 0.901 | deleterious | None | None | None | None | N |
| V/S | 0.9323 | likely_pathogenic | 0.9056 | pathogenic | -3.466 | Highly Destabilizing | 0.998 | D | 0.848 | deleterious | None | None | None | None | N |
| V/T | 0.6804 | likely_pathogenic | 0.6113 | pathogenic | -3.043 | Highly Destabilizing | 0.972 | D | 0.626 | neutral | None | None | None | None | N |
| V/W | 0.9831 | likely_pathogenic | 0.9797 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/Y | 0.9609 | likely_pathogenic | 0.9518 | pathogenic | -1.876 | Destabilizing | 0.999 | D | 0.753 | 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.