Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15381 | 46366;46367;46368 | chr2:178620380;178620379;178620378 | chr2:179485107;179485106;179485105 |
| N2AB | 13740 | 41443;41444;41445 | chr2:178620380;178620379;178620378 | chr2:179485107;179485106;179485105 |
| N2A | 12813 | 38662;38663;38664 | chr2:178620380;178620379;178620378 | chr2:179485107;179485106;179485105 |
| N2B | 6316 | 19171;19172;19173 | chr2:178620380;178620379;178620378 | chr2:179485107;179485106;179485105 |
| Novex-1 | 6441 | 19546;19547;19548 | chr2:178620380;178620379;178620378 | chr2:179485107;179485106;179485105 |
| Novex-2 | 6508 | 19747;19748;19749 | chr2:178620380;178620379;178620378 | chr2:179485107;179485106;179485105 |
| 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 | rs369269320  |
-0.812 | 0.001 | N | 0.229 | 0.096 | 0.279776271856 | gnomAD-2.1.1 | 3.60628E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.83604E-03 | None | 0 | 8.96E-06 | 3.34113E-04 |
| V/A | rs369269320 |
-0.812 | 0.001 | N | 0.229 | 0.096 | 0.279776271856 | gnomAD-3.1.2 | 1.38256E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.35504E-03 | 0 |
| V/A | rs369269320 |
-0.812 | 0.001 | N | 0.229 | 0.096 | 0.279776271856 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 3.1E-03 | None |
| V/A | rs369269320 |
-0.812 | 0.001 | N | 0.229 | 0.096 | 0.279776271856 | gnomAD-4.0.0 | 1.46468E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.65618E-04 | 3.39416E-06 | 2.39266E-03 | 2.2451E-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 | 0.1815 | likely_benign | 0.1036 | benign | -1.057 | Destabilizing | 0.001 | N | 0.229 | neutral | N | 0.443450411 | None | None | N |
| V/C | 0.6946 | likely_pathogenic | 0.7321 | pathogenic | -0.774 | Destabilizing | 0.944 | D | 0.573 | neutral | None | None | None | None | N |
| V/D | 0.4434 | ambiguous | 0.4087 | ambiguous | -0.631 | Destabilizing | 0.627 | D | 0.579 | neutral | N | 0.448861511 | None | None | N |
| V/E | 0.2763 | likely_benign | 0.265 | benign | -0.696 | Destabilizing | 0.388 | N | 0.555 | neutral | None | None | None | None | N |
| V/F | 0.218 | likely_benign | 0.1804 | benign | -0.96 | Destabilizing | 0.773 | D | 0.619 | neutral | N | 0.448765882 | None | None | N |
| V/G | 0.3001 | likely_benign | 0.2698 | benign | -1.287 | Destabilizing | 0.193 | N | 0.501 | neutral | N | 0.449764175 | None | None | N |
| V/H | 0.5405 | ambiguous | 0.5064 | ambiguous | -0.782 | Destabilizing | 0.981 | D | 0.583 | neutral | None | None | None | None | N |
| V/I | 0.0935 | likely_benign | 0.0947 | benign | -0.562 | Destabilizing | 0.165 | N | 0.542 | neutral | N | 0.448765882 | None | None | N |
| V/K | 0.2941 | likely_benign | 0.2428 | benign | -0.854 | Destabilizing | 0.388 | N | 0.563 | neutral | None | None | None | None | N |
| V/L | 0.2561 | likely_benign | 0.2546 | benign | -0.562 | Destabilizing | 0.09 | N | 0.509 | neutral | N | 0.438611132 | None | None | N |
| V/M | 0.1597 | likely_benign | 0.1587 | benign | -0.455 | Destabilizing | 0.818 | D | 0.593 | neutral | None | None | None | None | N |
| V/N | 0.3049 | likely_benign | 0.267 | benign | -0.573 | Destabilizing | 0.818 | D | 0.587 | neutral | None | None | None | None | N |
| V/P | 0.809 | likely_pathogenic | 0.781 | pathogenic | -0.691 | Destabilizing | 0.818 | D | 0.592 | neutral | None | None | None | None | N |
| V/Q | 0.3118 | likely_benign | 0.2889 | benign | -0.805 | Destabilizing | 0.818 | D | 0.596 | neutral | None | None | None | None | N |
| V/R | 0.2766 | likely_benign | 0.2227 | benign | -0.303 | Destabilizing | 0.69 | D | 0.597 | neutral | None | None | None | None | N |
| V/S | 0.2045 | likely_benign | 0.1803 | benign | -1.049 | Destabilizing | 0.241 | N | 0.529 | neutral | None | None | None | None | N |
| V/T | 0.151 | likely_benign | 0.1363 | benign | -1.011 | Destabilizing | 0.004 | N | 0.247 | neutral | None | None | None | None | N |
| V/W | 0.8265 | likely_pathogenic | 0.8249 | pathogenic | -1.054 | Destabilizing | 0.981 | D | 0.613 | neutral | None | None | None | None | N |
| V/Y | 0.5782 | likely_pathogenic | 0.5509 | ambiguous | -0.774 | Destabilizing | 0.932 | D | 0.608 | 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.