Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7117 | 21574;21575;21576 | chr2:178723910;178723909;178723908 | chr2:179588637;179588636;179588635 |
| N2AB | 6800 | 20623;20624;20625 | chr2:178723910;178723909;178723908 | chr2:179588637;179588636;179588635 |
| N2A | 5873 | 17842;17843;17844 | chr2:178723910;178723909;178723908 | chr2:179588637;179588636;179588635 |
| 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/L | None | None | 0.088 | N | 0.364 | 0.238 | 0.436886369515 | gnomAD-4.0.0 | 7.52833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99675E-06 | 0 | 1.65728E-05 |
| V/M | rs765385083  |
-0.478 | 0.175 | N | 0.358 | 0.257 | 0.451023696535 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.56331E-04 | None | 3.27E-05 | None | 0 | 1.57E-05 | 0 |
| V/M | rs765385083 |
-0.478 | 0.175 | N | 0.358 | 0.257 | 0.451023696535 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.78927E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs765385083 |
-0.478 | 0.175 | N | 0.358 | 0.257 | 0.451023696535 | gnomAD-4.0.0 | 1.61161E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.67499E-04 | None | 0 | 1.6469E-04 | 8.47797E-06 | 3.29468E-05 | 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 | 0.1564 | likely_benign | 0.148 | benign | -1.605 | Destabilizing | 0.201 | N | 0.521 | neutral | N | 0.499722115 | None | None | N |
| V/C | 0.79 | likely_pathogenic | 0.7433 | pathogenic | -1.065 | Destabilizing | 0.992 | D | 0.591 | neutral | None | None | None | None | N |
| V/D | 0.4524 | ambiguous | 0.422 | ambiguous | -1.694 | Destabilizing | 0.85 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/E | 0.1907 | likely_benign | 0.1912 | benign | -1.566 | Destabilizing | 0.379 | N | 0.637 | neutral | N | 0.515953864 | None | None | N |
| V/F | 0.1507 | likely_benign | 0.1367 | benign | -0.983 | Destabilizing | 0.85 | D | 0.619 | neutral | None | None | None | None | N |
| V/G | 0.3426 | ambiguous | 0.3256 | benign | -2.049 | Highly Destabilizing | 0.549 | D | 0.691 | prob.neutral | D | 0.532665395 | None | None | N |
| V/H | 0.457 | ambiguous | 0.415 | ambiguous | -1.733 | Destabilizing | 0.992 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/I | 0.0693 | likely_benign | 0.0671 | benign | -0.423 | Destabilizing | 0.009 | N | 0.208 | neutral | None | None | None | None | N |
| V/K | 0.1995 | likely_benign | 0.2008 | benign | -1.192 | Destabilizing | 0.002 | N | 0.495 | neutral | None | None | None | None | N |
| V/L | 0.1661 | likely_benign | 0.1491 | benign | -0.423 | Destabilizing | 0.088 | N | 0.364 | neutral | N | 0.484517922 | None | None | N |
| V/M | 0.0983 | likely_benign | 0.0949 | benign | -0.417 | Destabilizing | 0.175 | N | 0.358 | neutral | N | 0.496140944 | None | None | N |
| V/N | 0.3541 | ambiguous | 0.3122 | benign | -1.245 | Destabilizing | 0.85 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/P | 0.9602 | likely_pathogenic | 0.9444 | pathogenic | -0.785 | Destabilizing | 0.92 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/Q | 0.2076 | likely_benign | 0.201 | benign | -1.228 | Destabilizing | 0.85 | D | 0.683 | prob.neutral | None | None | None | None | N |
| V/R | 0.1779 | likely_benign | 0.1666 | benign | -0.93 | Destabilizing | 0.739 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/S | 0.2345 | likely_benign | 0.2116 | benign | -1.861 | Destabilizing | 0.617 | D | 0.644 | neutral | None | None | None | None | N |
| V/T | 0.1528 | likely_benign | 0.14 | benign | -1.608 | Destabilizing | 0.617 | D | 0.581 | neutral | None | None | None | None | N |
| V/W | 0.7243 | likely_pathogenic | 0.6693 | pathogenic | -1.391 | Destabilizing | 0.992 | D | 0.723 | prob.delet. | None | None | None | None | N |
| V/Y | 0.5077 | ambiguous | 0.4501 | ambiguous | -0.999 | Destabilizing | 0.92 | D | 0.619 | 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.