Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8899 | 26920;26921;26922 | chr2:178713963;178713962;178713961 | chr2:179578690;179578689;179578688 |
| N2AB | 8582 | 25969;25970;25971 | chr2:178713963;178713962;178713961 | chr2:179578690;179578689;179578688 |
| N2A | 7655 | 23188;23189;23190 | chr2:178713963;178713962;178713961 | chr2:179578690;179578689;179578688 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs765131331  |
None | None | N | 0.169 | 0.062 | 0.256283259241 | gnomAD-4.0.0 | 2.73712E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59814E-06 | 0 | 0 |
| V/L | rs765131331 |
-0.437 | None | N | 0.151 | 0.06 | 0.1749357433 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| V/L | rs765131331 |
-0.437 | None | N | 0.151 | 0.06 | 0.1749357433 | 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 |
| V/L | rs765131331 |
-0.437 | None | N | 0.151 | 0.06 | 0.1749357433 | gnomAD-4.0.0 | 5.57778E-06 | None | None | None | None | N | None | 0 | 1.66756E-05 | None | 0 | 0 | None | 0 | 0 | 6.78135E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.098 | likely_benign | 0.1024 | benign | -1.051 | Destabilizing | None | N | 0.132 | neutral | N | 0.503235282 | None | None | N |
| V/C | 0.5185 | ambiguous | 0.5517 | ambiguous | -0.84 | Destabilizing | 0.54 | D | 0.455 | neutral | None | None | None | None | N |
| V/D | 0.1137 | likely_benign | 0.1263 | benign | -0.272 | Destabilizing | 0.033 | N | 0.432 | neutral | None | None | None | None | N |
| V/E | 0.1055 | likely_benign | 0.0995 | benign | -0.324 | Destabilizing | None | N | 0.234 | neutral | N | 0.405129945 | None | None | N |
| V/F | 0.0886 | likely_benign | 0.1007 | benign | -1.04 | Destabilizing | 0.142 | N | 0.505 | neutral | None | None | None | None | N |
| V/G | 0.1249 | likely_benign | 0.134 | benign | -1.284 | Destabilizing | 0.025 | N | 0.387 | neutral | N | 0.501025561 | None | None | N |
| V/H | 0.2463 | likely_benign | 0.2681 | benign | -0.805 | Destabilizing | 0.54 | D | 0.534 | neutral | None | None | None | None | N |
| V/I | 0.0652 | likely_benign | 0.0655 | benign | -0.546 | Destabilizing | None | N | 0.169 | neutral | N | 0.486343033 | None | None | N |
| V/K | 0.1337 | likely_benign | 0.1251 | benign | -0.552 | Destabilizing | 0.033 | N | 0.359 | neutral | None | None | None | None | N |
| V/L | 0.089 | likely_benign | 0.096 | benign | -0.546 | Destabilizing | None | N | 0.151 | neutral | N | 0.468816065 | None | None | N |
| V/M | 0.0845 | likely_benign | 0.0876 | benign | -0.463 | Destabilizing | 0.002 | N | 0.295 | neutral | None | None | None | None | N |
| V/N | 0.0953 | likely_benign | 0.1102 | benign | -0.296 | Destabilizing | 0.002 | N | 0.398 | neutral | None | None | None | None | N |
| V/P | 0.3392 | likely_benign | 0.3986 | ambiguous | -0.678 | Destabilizing | 0.251 | N | 0.515 | neutral | None | None | None | None | N |
| V/Q | 0.137 | likely_benign | 0.1307 | benign | -0.511 | Destabilizing | 0.076 | N | 0.512 | neutral | None | None | None | None | N |
| V/R | 0.1256 | likely_benign | 0.127 | benign | -0.117 | Destabilizing | 0.001 | N | 0.396 | neutral | None | None | None | None | N |
| V/S | 0.096 | likely_benign | 0.1056 | benign | -0.873 | Destabilizing | 0.033 | N | 0.347 | neutral | None | None | None | None | N |
| V/T | 0.0904 | likely_benign | 0.0918 | benign | -0.811 | Destabilizing | None | N | 0.128 | neutral | None | None | None | None | N |
| V/W | 0.4693 | ambiguous | 0.5117 | ambiguous | -1.105 | Destabilizing | 0.931 | D | 0.535 | neutral | None | None | None | None | N |
| V/Y | 0.256 | likely_benign | 0.2941 | benign | -0.788 | Destabilizing | 0.54 | D | 0.525 | neutral | 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.