Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28109 | 84550;84551;84552 | chr2:178561807;178561806;178561805 | chr2:179426534;179426533;179426532 |
| N2AB | 26468 | 79627;79628;79629 | chr2:178561807;178561806;178561805 | chr2:179426534;179426533;179426532 |
| N2A | 25541 | 76846;76847;76848 | chr2:178561807;178561806;178561805 | chr2:179426534;179426533;179426532 |
| N2B | 19044 | 57355;57356;57357 | chr2:178561807;178561806;178561805 | chr2:179426534;179426533;179426532 |
| Novex-1 | 19169 | 57730;57731;57732 | chr2:178561807;178561806;178561805 | chr2:179426534;179426533;179426532 |
| Novex-2 | 19236 | 57931;57932;57933 | chr2:178561807;178561806;178561805 | chr2:179426534;179426533;179426532 |
| 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/F | rs1173902848  |
-1.138 | 1.0 | N | 0.819 | 0.438 | 0.783931297933 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs1173902848 |
-1.138 | 1.0 | N | 0.819 | 0.438 | 0.783931297933 | gnomAD-4.0.0 | 3.18337E-06 | None | None | None | None | N | None | 0 | 4.57352E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | 0.997 | N | 0.589 | 0.29 | 0.610735333248 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77994E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.533 | ambiguous | 0.5079 | ambiguous | -1.589 | Destabilizing | 0.999 | D | 0.626 | neutral | N | 0.516899934 | None | None | N |
| V/C | 0.9396 | likely_pathogenic | 0.9301 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/D | 0.9798 | likely_pathogenic | 0.982 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.486951371 | None | None | N |
| V/E | 0.9377 | likely_pathogenic | 0.9438 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/F | 0.6962 | likely_pathogenic | 0.7775 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.493574416 | None | None | N |
| V/G | 0.8258 | likely_pathogenic | 0.8283 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.462753822 | None | None | N |
| V/H | 0.98 | likely_pathogenic | 0.984 | pathogenic | -1.766 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/I | 0.1011 | likely_benign | 0.1092 | benign | -0.254 | Destabilizing | 0.997 | D | 0.589 | neutral | N | 0.490524196 | None | None | N |
| V/K | 0.9531 | likely_pathogenic | 0.965 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| V/L | 0.5372 | ambiguous | 0.5834 | pathogenic | -0.254 | Destabilizing | 0.997 | D | 0.627 | neutral | N | 0.508069807 | None | None | N |
| V/M | 0.4299 | ambiguous | 0.4748 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| V/N | 0.9075 | likely_pathogenic | 0.9043 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9663 | likely_pathogenic | 0.9628 | pathogenic | -0.667 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/Q | 0.9204 | likely_pathogenic | 0.9284 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/R | 0.9358 | likely_pathogenic | 0.9468 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.7762 | likely_pathogenic | 0.7462 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| V/T | 0.5437 | ambiguous | 0.5599 | ambiguous | -1.69 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| V/W | 0.9932 | likely_pathogenic | 0.9957 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.9695 | likely_pathogenic | 0.9774 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.827 | 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.