Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18579 | 55960;55961;55962 | chr2:178601169;178601168;178601167 | chr2:179465896;179465895;179465894 |
| N2AB | 16938 | 51037;51038;51039 | chr2:178601169;178601168;178601167 | chr2:179465896;179465895;179465894 |
| N2A | 16011 | 48256;48257;48258 | chr2:178601169;178601168;178601167 | chr2:179465896;179465895;179465894 |
| N2B | 9514 | 28765;28766;28767 | chr2:178601169;178601168;178601167 | chr2:179465896;179465895;179465894 |
| Novex-1 | 9639 | 29140;29141;29142 | chr2:178601169;178601168;178601167 | chr2:179465896;179465895;179465894 |
| Novex-2 | 9706 | 29341;29342;29343 | chr2:178601169;178601168;178601167 | chr2:179465896;179465895;179465894 |
| 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/S | rs912809911  |
-0.07 | 1.0 | N | 0.845 | 0.344 | 0.3571064206 | gnomAD-2.1.1 | 5.59E-06 | None | None | None | None | I | None | 0 | 4.78E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs912809911 |
-0.07 | 1.0 | N | 0.845 | 0.344 | 0.3571064206 | gnomAD-4.0.0 | 7.28409E-07 | None | None | None | None | I | None | 0 | 3.37975E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs912809911 |
-0.081 | 1.0 | N | 0.831 | 0.435 | 0.425499470309 | gnomAD-2.1.1 | 5.59E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.82E-05 | 0 | 0 |
| P/T | rs912809911 |
-0.081 | 1.0 | N | 0.831 | 0.435 | 0.425499470309 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/T | rs912809911 |
-0.081 | 1.0 | N | 0.831 | 0.435 | 0.425499470309 | gnomAD-4.0.0 | 1.96747E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.64821E-05 | 0 | 1.75369E-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 | 0.1449 | likely_benign | 0.1648 | benign | -0.407 | Destabilizing | 0.999 | D | 0.807 | deleterious | N | 0.464778057 | None | None | I |
| P/C | 0.737 | likely_pathogenic | 0.7417 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| P/D | 0.9399 | likely_pathogenic | 0.94 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| P/E | 0.6268 | likely_pathogenic | 0.647 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| P/F | 0.8453 | likely_pathogenic | 0.8588 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| P/G | 0.7522 | likely_pathogenic | 0.784 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| P/H | 0.5876 | likely_pathogenic | 0.6091 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.490697126 | None | None | I |
| P/I | 0.4624 | ambiguous | 0.5059 | ambiguous | -0.308 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| P/K | 0.6274 | likely_pathogenic | 0.714 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| P/L | 0.2855 | likely_benign | 0.3244 | benign | -0.308 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.512203403 | None | None | I |
| P/M | 0.5974 | likely_pathogenic | 0.6223 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| P/N | 0.8424 | likely_pathogenic | 0.845 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| P/Q | 0.371 | ambiguous | 0.4179 | ambiguous | -0.172 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| P/R | 0.4392 | ambiguous | 0.5187 | ambiguous | 0.356 | Stabilizing | 1.0 | D | 0.864 | deleterious | N | 0.502911917 | None | None | I |
| P/S | 0.3765 | ambiguous | 0.3986 | ambiguous | -0.252 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.478669258 | None | None | I |
| P/T | 0.2982 | likely_benign | 0.3274 | benign | -0.282 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.496013044 | None | None | I |
| P/V | 0.3311 | likely_benign | 0.3566 | ambiguous | -0.308 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| P/W | 0.944 | likely_pathogenic | 0.9449 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| P/Y | 0.8525 | likely_pathogenic | 0.8681 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
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.