Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3689 | 11290;11291;11292 | chr2:178756411;178756410;178756409 | chr2:179621138;179621137;179621136 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3518 | 10777;10778;10779 | chr2:178756411;178756410;178756409 | chr2:179621138;179621137;179621136 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs527924868  |
-2.361 | None | None | None | 0.141 | None | gnomAD-2.1.1 | 1.49997E-04 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 1.17655E-03 | None | 0 | 3.12E-05 | 0 |
| I/T | rs527924868 |
-2.361 | None | None | None | 0.141 | None | gnomAD-3.1.2 | 1.11725E-04 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 2.27932E-03 | 0 |
| I/T | rs527924868 |
-2.361 | None | None | None | 0.141 | None | 1000 genomes | 7.98722E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 4.1E-03 | None |
| I/T | rs527924868 |
-2.361 | None | None | None | 0.141 | None | gnomAD-4.0.0 | 9.54271E-05 | None | None | None | None | N | None | 3.99776E-05 | 1.66694E-05 | None | 0 | 0 | None | 0 | 4.9505E-04 | 2.2885E-05 | 1.27361E-03 | 6.40164E-05 |
| I/V | rs1299991139 |
None | None | None | None | 0.087 | None | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85804E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.1231 | likely_benign | None | None | -1.681 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.4479 | ambiguous | None | None | -1.12 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.3815 | ambiguous | None | None | -0.907 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.2946 | likely_benign | None | None | -0.881 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.1453 | likely_benign | None | None | -1.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.3778 | ambiguous | None | None | -2.028 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.3055 | likely_benign | None | None | -1.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.1993 | likely_benign | None | None | -1.163 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1099 | likely_benign | None | None | -0.796 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.0918 | likely_benign | None | None | -0.677 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.1749 | likely_benign | None | None | -1.017 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.2981 | likely_benign | None | None | -1.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.2433 | likely_benign | None | None | -1.143 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.1381 | likely_benign | None | None | -0.633 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.1307 | likely_benign | None | None | -1.689 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.0742 | likely_benign | None | None | -1.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.0769 | likely_benign | None | None | -1.059 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.5513 | ambiguous | None | None | -1.187 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.3791 | ambiguous | None | None | -0.962 | Destabilizing | None | None | None | None | 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.