Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26975 | 81148;81149;81150 | chr2:178565209;178565208;178565207 | chr2:179429936;179429935;179429934 |
| N2AB | 25334 | 76225;76226;76227 | chr2:178565209;178565208;178565207 | chr2:179429936;179429935;179429934 |
| N2A | 24407 | 73444;73445;73446 | chr2:178565209;178565208;178565207 | chr2:179429936;179429935;179429934 |
| N2B | 17910 | 53953;53954;53955 | chr2:178565209;178565208;178565207 | chr2:179429936;179429935;179429934 |
| Novex-1 | 18035 | 54328;54329;54330 | chr2:178565209;178565208;178565207 | chr2:179429936;179429935;179429934 |
| Novex-2 | 18102 | 54529;54530;54531 | chr2:178565209;178565208;178565207 | chr2:179429936;179429935;179429934 |
| 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/R | None | None | 0.994 | D | 0.925 | 0.584 | 0.487348339145 | gnomAD-4.0.0 | 1.59177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43324E-05 | 0 |
| P/S | None | None | 0.994 | N | 0.866 | 0.464 | 0.352476196916 | gnomAD-4.0.0 | 6.84295E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99538E-07 | 0 | 0 |
| P/T | rs1283579585  |
-1.373 | 0.988 | N | 0.86 | 0.516 | 0.432266382184 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| P/T | rs1283579585 |
-1.373 | 0.988 | N | 0.86 | 0.516 | 0.432266382184 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs1283579585 |
-1.373 | 0.988 | N | 0.86 | 0.516 | 0.432266382184 | gnomAD-4.0.0 | 1.85937E-06 | None | None | None | None | N | None | 0 | 1.66739E-05 | None | 0 | 0 | None | 0 | 0 | 1.69536E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1085 | likely_benign | 0.096 | benign | -1.658 | Destabilizing | 0.958 | D | 0.813 | deleterious | N | 0.468116782 | None | None | N |
| P/C | 0.5417 | ambiguous | 0.4828 | ambiguous | -1.079 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/D | 0.8217 | likely_pathogenic | 0.7873 | pathogenic | -1.914 | Destabilizing | 0.998 | D | 0.889 | deleterious | None | None | None | None | N |
| P/E | 0.4755 | ambiguous | 0.4436 | ambiguous | -1.939 | Destabilizing | 0.995 | D | 0.878 | deleterious | None | None | None | None | N |
| P/F | 0.6065 | likely_pathogenic | 0.5481 | ambiguous | -1.436 | Destabilizing | 0.998 | D | 0.932 | deleterious | None | None | None | None | N |
| P/G | 0.61 | likely_pathogenic | 0.5494 | ambiguous | -1.947 | Destabilizing | 0.995 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.3883 | ambiguous | 0.3511 | ambiguous | -1.462 | Destabilizing | 0.999 | D | 0.915 | deleterious | D | 0.526356794 | None | None | N |
| P/I | 0.2507 | likely_benign | 0.2081 | benign | -0.961 | Destabilizing | 0.982 | D | 0.896 | deleterious | None | None | None | None | N |
| P/K | 0.4243 | ambiguous | 0.3909 | ambiguous | -1.316 | Destabilizing | 0.995 | D | 0.887 | deleterious | None | None | None | None | N |
| P/L | 0.1577 | likely_benign | 0.1379 | benign | -0.961 | Destabilizing | 0.142 | N | 0.723 | prob.delet. | N | 0.513226062 | None | None | N |
| P/M | 0.3364 | likely_benign | 0.2793 | benign | -0.661 | Destabilizing | 0.998 | D | 0.932 | deleterious | None | None | None | None | N |
| P/N | 0.6252 | likely_pathogenic | 0.5454 | ambiguous | -1.112 | Destabilizing | 0.998 | D | 0.931 | deleterious | None | None | None | None | N |
| P/Q | 0.2459 | likely_benign | 0.2187 | benign | -1.372 | Destabilizing | 0.998 | D | 0.898 | deleterious | None | None | None | None | N |
| P/R | 0.3238 | likely_benign | 0.305 | benign | -0.714 | Destabilizing | 0.994 | D | 0.925 | deleterious | D | 0.525342836 | None | None | N |
| P/S | 0.2426 | likely_benign | 0.2067 | benign | -1.558 | Destabilizing | 0.994 | D | 0.866 | deleterious | N | 0.498619937 | None | None | N |
| P/T | 0.1901 | likely_benign | 0.1667 | benign | -1.489 | Destabilizing | 0.988 | D | 0.86 | deleterious | N | 0.4985913 | None | None | N |
| P/V | 0.1966 | likely_benign | 0.1629 | benign | -1.161 | Destabilizing | 0.982 | D | 0.881 | deleterious | None | None | None | None | N |
| P/W | 0.8623 | likely_pathogenic | 0.8419 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/Y | 0.6533 | likely_pathogenic | 0.6008 | pathogenic | -1.332 | Destabilizing | 0.999 | D | 0.933 | 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.