Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32792 | 98599;98600;98601 | chr2:178539691;178539690;178539689 | chr2:179404418;179404417;179404416 |
| N2AB | 31151 | 93676;93677;93678 | chr2:178539691;178539690;178539689 | chr2:179404418;179404417;179404416 |
| N2A | 30224 | 90895;90896;90897 | chr2:178539691;178539690;178539689 | chr2:179404418;179404417;179404416 |
| N2B | 23727 | 71404;71405;71406 | chr2:178539691;178539690;178539689 | chr2:179404418;179404417;179404416 |
| Novex-1 | 23852 | 71779;71780;71781 | chr2:178539691;178539690;178539689 | chr2:179404418;179404417;179404416 |
| Novex-2 | 23919 | 71980;71981;71982 | chr2:178539691;178539690;178539689 | chr2:179404418;179404417;179404416 |
| 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 | rs747325715  |
-0.548 | 0.906 | D | 0.502 | 0.659 | 0.68224456972 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs747325715 |
-0.548 | 0.906 | D | 0.502 | 0.659 | 0.68224456972 | gnomAD-4.0.0 | 3.18285E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 3.02352E-05 |
| V/L | None | None | 0.906 | D | 0.495 | 0.54 | 0.709842139176 | gnomAD-4.0.0 | 6.84236E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99441E-07 | 0 | 0 |
| V/M | None | None | 0.998 | D | 0.551 | 0.554 | 0.764948783812 | gnomAD-4.0.0 | 6.84236E-07 | None | None | None | None | I | None | 0 | 2.23604E-05 | None | 0 | 0 | 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 | 0.9506 | likely_pathogenic | 0.9354 | pathogenic | -2.063 | Highly Destabilizing | 0.906 | D | 0.502 | neutral | D | 0.586943943 | None | None | I |
| V/C | 0.9824 | likely_pathogenic | 0.9796 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| V/D | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -2.953 | Highly Destabilizing | 0.939 | D | 0.609 | neutral | None | None | None | None | I |
| V/E | 0.9918 | likely_pathogenic | 0.9911 | pathogenic | -2.863 | Highly Destabilizing | 0.238 | N | 0.443 | neutral | D | 0.603568716 | None | None | I |
| V/F | 0.9685 | likely_pathogenic | 0.9618 | pathogenic | -1.456 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | I |
| V/G | 0.9425 | likely_pathogenic | 0.93 | pathogenic | -2.452 | Highly Destabilizing | 0.03 | N | 0.434 | neutral | D | 0.603568716 | None | None | I |
| V/H | 0.9984 | likely_pathogenic | 0.9981 | pathogenic | -1.933 | Destabilizing | 0.995 | D | 0.655 | neutral | None | None | None | None | I |
| V/I | 0.1923 | likely_benign | 0.1728 | benign | -1.03 | Destabilizing | 0.995 | D | 0.495 | neutral | None | None | None | None | I |
| V/K | 0.9947 | likely_pathogenic | 0.9945 | pathogenic | -1.764 | Destabilizing | 0.939 | D | 0.57 | neutral | None | None | None | None | I |
| V/L | 0.9347 | likely_pathogenic | 0.9239 | pathogenic | -1.03 | Destabilizing | 0.906 | D | 0.495 | neutral | D | 0.600945261 | None | None | I |
| V/M | 0.9253 | likely_pathogenic | 0.9106 | pathogenic | -1.115 | Destabilizing | 0.998 | D | 0.551 | neutral | D | 0.603165108 | None | None | I |
| V/N | 0.9824 | likely_pathogenic | 0.9793 | pathogenic | -1.912 | Destabilizing | 0.984 | D | 0.645 | neutral | None | None | None | None | I |
| V/P | 0.99 | likely_pathogenic | 0.9881 | pathogenic | -1.347 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | I |
| V/Q | 0.9943 | likely_pathogenic | 0.9937 | pathogenic | -2.013 | Highly Destabilizing | 0.546 | D | 0.487 | neutral | None | None | None | None | I |
| V/R | 0.9914 | likely_pathogenic | 0.9911 | pathogenic | -1.299 | Destabilizing | 0.991 | D | 0.643 | neutral | None | None | None | None | I |
| V/S | 0.9735 | likely_pathogenic | 0.9659 | pathogenic | -2.413 | Highly Destabilizing | 0.969 | D | 0.557 | neutral | None | None | None | None | I |
| V/T | 0.9347 | likely_pathogenic | 0.9244 | pathogenic | -2.212 | Highly Destabilizing | 0.984 | D | 0.468 | neutral | None | None | None | None | I |
| V/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| V/Y | 0.9958 | likely_pathogenic | 0.9951 | pathogenic | -1.484 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | I |
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.