Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2102 | 6529;6530;6531 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
| N2AB | 2102 | 6529;6530;6531 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
| N2A | 2102 | 6529;6530;6531 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
| N2B | 2056 | 6391;6392;6393 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
| Novex-1 | 2056 | 6391;6392;6393 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
| Novex-2 | 2056 | 6391;6392;6393 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
| Novex-3 | 2102 | 6529;6530;6531 | chr2:178775560;178775559;178775558 | chr2:179640287;179640286;179640285 |
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 | rs767322897  |
-0.532 | 0.577 | N | 0.38 | 0.123 | 0.446715556694 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| V/L | rs767322897 |
-0.532 | 0.577 | N | 0.38 | 0.123 | 0.446715556694 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/L | rs767322897 |
-0.532 | 0.577 | N | 0.38 | 0.123 | 0.446715556694 | gnomAD-4.0.0 | 2.78826E-05 | None | None | None | None | N | None | 0 | 1.66728E-05 | None | 0 | 0 | None | 0 | 0 | 3.47458E-05 | 1.09794E-05 | 3.20113E-05 |
| V/M | rs767322897 |
-0.473 | 0.99 | N | 0.533 | 0.19 | 0.54038131941 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 8.83E-06 | 0 |
| V/M | rs767322897 |
-0.473 | 0.99 | N | 0.533 | 0.19 | 0.54038131941 | gnomAD-4.0.0 | 1.09458E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07918E-05 | 4.63725E-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 | 0.2574 | likely_benign | 0.2542 | benign | -1.665 | Destabilizing | 0.722 | D | 0.463 | neutral | N | 0.497095399 | None | None | N |
| V/C | 0.8808 | likely_pathogenic | 0.8712 | pathogenic | -0.95 | Destabilizing | 0.996 | D | 0.614 | neutral | None | None | None | None | N |
| V/D | 0.7562 | likely_pathogenic | 0.7426 | pathogenic | -1.685 | Destabilizing | 0.987 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/E | 0.5852 | likely_pathogenic | 0.5851 | pathogenic | -1.599 | Destabilizing | 0.949 | D | 0.69 | prob.neutral | N | 0.470803275 | None | None | N |
| V/F | 0.3169 | likely_benign | 0.3118 | benign | -1.08 | Destabilizing | 0.858 | D | 0.621 | neutral | None | None | None | None | N |
| V/G | 0.4775 | ambiguous | 0.4701 | ambiguous | -2.075 | Highly Destabilizing | 0.901 | D | 0.681 | prob.neutral | N | 0.50768377 | None | None | N |
| V/H | 0.7905 | likely_pathogenic | 0.7913 | pathogenic | -1.737 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/I | 0.0908 | likely_benign | 0.0935 | benign | -0.593 | Destabilizing | 0.044 | N | 0.186 | neutral | None | None | None | None | N |
| V/K | 0.6569 | likely_pathogenic | 0.6505 | pathogenic | -1.439 | Destabilizing | 0.961 | D | 0.692 | prob.neutral | None | None | None | None | N |
| V/L | 0.3453 | ambiguous | 0.3526 | ambiguous | -0.593 | Destabilizing | 0.577 | D | 0.38 | neutral | N | 0.498819225 | None | None | N |
| V/M | 0.2426 | likely_benign | 0.2402 | benign | -0.391 | Destabilizing | 0.99 | D | 0.533 | neutral | N | 0.508827218 | None | None | N |
| V/N | 0.596 | likely_pathogenic | 0.5832 | pathogenic | -1.323 | Destabilizing | 0.987 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/P | 0.967 | likely_pathogenic | 0.9703 | pathogenic | -0.918 | Destabilizing | 0.987 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/Q | 0.5504 | ambiguous | 0.5546 | ambiguous | -1.364 | Destabilizing | 0.987 | D | 0.708 | prob.delet. | None | None | None | None | N |
| V/R | 0.5594 | ambiguous | 0.551 | ambiguous | -1.052 | Destabilizing | 0.961 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/S | 0.3558 | ambiguous | 0.345 | ambiguous | -1.878 | Destabilizing | 0.961 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/T | 0.2183 | likely_benign | 0.2179 | benign | -1.673 | Destabilizing | 0.875 | D | 0.485 | neutral | None | None | None | None | N |
| V/W | 0.9116 | likely_pathogenic | 0.9144 | pathogenic | -1.435 | Destabilizing | 0.054 | N | 0.446 | neutral | None | None | None | None | N |
| V/Y | 0.774 | likely_pathogenic | 0.7767 | pathogenic | -1.102 | Destabilizing | 0.858 | D | 0.631 | 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.