Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3284 | 10075;10076;10077 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
| N2AB | 3284 | 10075;10076;10077 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
| N2A | 3284 | 10075;10076;10077 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
| N2B | 3238 | 9937;9938;9939 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
| Novex-1 | 3238 | 9937;9938;9939 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
| Novex-2 | 3238 | 9937;9938;9939 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
| Novex-3 | 3284 | 10075;10076;10077 | chr2:178764665;178764664;178764663 | chr2:179629392;179629391;179629390 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs147903846  |
-0.122 | 0.999 | N | 0.523 | 0.204 | None | gnomAD-2.1.1 | 5.67E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.08699E-04 | 0 |
| K/R | rs147903846 |
-0.122 | 0.999 | N | 0.523 | 0.204 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 4.78011E-04 |
| K/R | rs147903846 |
-0.122 | 0.999 | N | 0.523 | 0.204 | None | gnomAD-4.0.0 | 9.04528E-05 | None | None | None | None | N | None | 1.33255E-05 | 0 | None | 0 | 0 | None | 0 | 3.30142E-04 | 1.13562E-04 | 0 | 1.43982E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9867 | likely_pathogenic | 0.9894 | pathogenic | -0.594 | Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| K/C | 0.9929 | likely_pathogenic | 0.9944 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| K/D | 0.9939 | likely_pathogenic | 0.9962 | pathogenic | 0.164 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| K/E | 0.9807 | likely_pathogenic | 0.9858 | pathogenic | 0.305 | Stabilizing | 0.999 | D | 0.53 | neutral | N | 0.511650585 | None | None | N |
| K/F | 0.9966 | likely_pathogenic | 0.9976 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| K/G | 0.9893 | likely_pathogenic | 0.9922 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| K/H | 0.8912 | likely_pathogenic | 0.9153 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| K/I | 0.9855 | likely_pathogenic | 0.9858 | pathogenic | 0.364 | Stabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| K/L | 0.9576 | likely_pathogenic | 0.9701 | pathogenic | 0.364 | Stabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| K/M | 0.9663 | likely_pathogenic | 0.977 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.593 | neutral | D | 0.631641576 | None | None | N |
| K/N | 0.9878 | likely_pathogenic | 0.9907 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.648 | neutral | N | 0.512225935 | None | None | N |
| K/P | 0.9828 | likely_pathogenic | 0.9812 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| K/Q | 0.8905 | likely_pathogenic | 0.9122 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.629 | neutral | N | 0.514528051 | None | None | N |
| K/R | 0.2944 | likely_benign | 0.315 | benign | -0.38 | Destabilizing | 0.999 | D | 0.523 | neutral | N | 0.461443726 | None | None | N |
| K/S | 0.9876 | likely_pathogenic | 0.9903 | pathogenic | -1.044 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| K/T | 0.9533 | likely_pathogenic | 0.9658 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.656 | neutral | N | 0.513630782 | None | None | N |
| K/V | 0.9816 | likely_pathogenic | 0.9836 | pathogenic | 0.074 | Stabilizing | 1.0 | D | 0.614 | neutral | None | None | None | None | N |
| K/W | 0.9929 | likely_pathogenic | 0.9955 | pathogenic | -0.107 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| K/Y | 0.9865 | likely_pathogenic | 0.9916 | pathogenic | 0.17 | Stabilizing | 1.0 | D | 0.595 | 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.