Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15497 | 46714;46715;46716 | chr2:178619828;178619827;178619826 | chr2:179484555;179484554;179484553 |
| N2AB | 13856 | 41791;41792;41793 | chr2:178619828;178619827;178619826 | chr2:179484555;179484554;179484553 |
| N2A | 12929 | 39010;39011;39012 | chr2:178619828;178619827;178619826 | chr2:179484555;179484554;179484553 |
| N2B | 6432 | 19519;19520;19521 | chr2:178619828;178619827;178619826 | chr2:179484555;179484554;179484553 |
| Novex-1 | 6557 | 19894;19895;19896 | chr2:178619828;178619827;178619826 | chr2:179484555;179484554;179484553 |
| Novex-2 | 6624 | 20095;20096;20097 | chr2:178619828;178619827;178619826 | chr2:179484555;179484554;179484553 |
| 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/A | rs2057998545  |
None | 0.999 | N | 0.571 | 0.6 | 0.748464722647 | gnomAD-4.0.0 | 3.18911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86428E-06 | 1.43431E-05 | 0 |
| V/F | rs371299188 |
-1.353 | 1.0 | D | 0.869 | 0.484 | 0.90349967066 | gnomAD-2.1.1 | 8.49E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.28536E-04 | None | 2.28998E-04 | None | 0 | 8.95E-06 | 0 |
| V/F | rs371299188 |
-1.353 | 1.0 | D | 0.869 | 0.484 | 0.90349967066 | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.55642E-03 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs371299188 |
-1.353 | 1.0 | D | 0.869 | 0.484 | 0.90349967066 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 3E-03 | 0 | None | None | None | 0 | None |
| V/F | rs371299188 |
-1.353 | 1.0 | D | 0.869 | 0.484 | 0.90349967066 | gnomAD-4.0.0 | 3.22538E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.69715E-04 | None | 0 | 0 | 8.48241E-07 | 2.30759E-04 | 1.44231E-04 |
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 | 0.3929 | ambiguous | 0.3423 | ambiguous | -1.911 | Destabilizing | 0.999 | D | 0.571 | neutral | N | 0.399762771 | None | None | N |
| V/C | 0.8791 | likely_pathogenic | 0.9005 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/D | 0.9824 | likely_pathogenic | 0.9843 | pathogenic | -2.389 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.543224131 | None | None | N |
| V/E | 0.9564 | likely_pathogenic | 0.96 | pathogenic | -2.183 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/F | 0.788 | likely_pathogenic | 0.7794 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.543721454 | None | None | N |
| V/G | 0.7696 | likely_pathogenic | 0.7656 | pathogenic | -2.442 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.543041604 | None | None | N |
| V/H | 0.9835 | likely_pathogenic | 0.9863 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| V/I | 0.1153 | likely_benign | 0.1109 | benign | -0.444 | Destabilizing | 0.997 | D | 0.521 | neutral | N | 0.518583035 | None | None | N |
| V/K | 0.9353 | likely_pathogenic | 0.9441 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/L | 0.669 | likely_pathogenic | 0.6247 | pathogenic | -0.444 | Destabilizing | 0.997 | D | 0.579 | neutral | D | 0.545501308 | None | None | N |
| V/M | 0.5209 | ambiguous | 0.4692 | ambiguous | -0.462 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/N | 0.9452 | likely_pathogenic | 0.9508 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/P | 0.99 | likely_pathogenic | 0.9903 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/Q | 0.9395 | likely_pathogenic | 0.9465 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/R | 0.905 | likely_pathogenic | 0.9191 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/S | 0.7857 | likely_pathogenic | 0.784 | pathogenic | -2.57 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/T | 0.4519 | ambiguous | 0.4429 | ambiguous | -2.213 | Highly Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| V/W | 0.9952 | likely_pathogenic | 0.9963 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/Y | 0.9737 | likely_pathogenic | 0.9769 | pathogenic | -1.223 | Destabilizing | 1.0 | D | 0.868 | deleterious | 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.