Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25722 | 77389;77390;77391 | chr2:178568968;178568967;178568966 | chr2:179433695;179433694;179433693 |
| N2AB | 24081 | 72466;72467;72468 | chr2:178568968;178568967;178568966 | chr2:179433695;179433694;179433693 |
| N2A | 23154 | 69685;69686;69687 | chr2:178568968;178568967;178568966 | chr2:179433695;179433694;179433693 |
| N2B | 16657 | 50194;50195;50196 | chr2:178568968;178568967;178568966 | chr2:179433695;179433694;179433693 |
| Novex-1 | 16782 | 50569;50570;50571 | chr2:178568968;178568967;178568966 | chr2:179433695;179433694;179433693 |
| Novex-2 | 16849 | 50770;50771;50772 | chr2:178568968;178568967;178568966 | chr2:179433695;179433694;179433693 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs776432275  |
-2.239 | 1.0 | D | 0.831 | 0.717 | 0.541015953236 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs776432275 |
-2.239 | 1.0 | D | 0.831 | 0.717 | 0.541015953236 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | -2.472 | 1.0 | D | 0.863 | 0.768 | 0.601816880433 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | None | -2.472 | 1.0 | D | 0.863 | 0.768 | 0.601816880433 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | -2.472 | 1.0 | D | 0.863 | 0.768 | 0.601816880433 | gnomAD-4.0.0 | 6.5786E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9089 | likely_pathogenic | 0.9019 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.576721569 | None | None | N |
| P/C | 0.9954 | likely_pathogenic | 0.9946 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -2.592 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/E | 0.9977 | likely_pathogenic | 0.9971 | pathogenic | -2.492 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/G | 0.9902 | likely_pathogenic | 0.9909 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.615866314 | None | None | N |
| P/I | 0.996 | likely_pathogenic | 0.995 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.85 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/L | 0.9786 | likely_pathogenic | 0.9742 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.605338542 | None | None | N |
| P/M | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/N | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.863 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/Q | 0.9971 | likely_pathogenic | 0.9963 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/R | 0.9966 | likely_pathogenic | 0.9955 | pathogenic | -1.408 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.596627008 | None | None | N |
| P/S | 0.9865 | likely_pathogenic | 0.9856 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.561923752 | None | None | N |
| P/T | 0.9808 | likely_pathogenic | 0.9785 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.615462706 | None | None | N |
| P/V | 0.9856 | likely_pathogenic | 0.9837 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.911 | 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.