Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25577 | 76954;76955;76956 | chr2:178569403;178569402;178569401 | chr2:179434130;179434129;179434128 |
| N2AB | 23936 | 72031;72032;72033 | chr2:178569403;178569402;178569401 | chr2:179434130;179434129;179434128 |
| N2A | 23009 | 69250;69251;69252 | chr2:178569403;178569402;178569401 | chr2:179434130;179434129;179434128 |
| N2B | 16512 | 49759;49760;49761 | chr2:178569403;178569402;178569401 | chr2:179434130;179434129;179434128 |
| Novex-1 | 16637 | 50134;50135;50136 | chr2:178569403;178569402;178569401 | chr2:179434130;179434129;179434128 |
| Novex-2 | 16704 | 50335;50336;50337 | chr2:178569403;178569402;178569401 | chr2:179434130;179434129;179434128 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs1482128356  |
-0.589 | 1.0 | D | 0.843 | 0.839 | 0.772277450693 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.6E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7819 | likely_pathogenic | 0.7878 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.586309964 | None | None | I |
| G/C | 0.9411 | likely_pathogenic | 0.945 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/D | 0.9815 | likely_pathogenic | 0.9819 | pathogenic | -0.919 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/E | 0.9889 | likely_pathogenic | 0.9885 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.64485474 | None | None | I |
| G/F | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/I | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/K | 0.995 | likely_pathogenic | 0.995 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/L | 0.9912 | likely_pathogenic | 0.9915 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/M | 0.9943 | likely_pathogenic | 0.9946 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/N | 0.9857 | likely_pathogenic | 0.9859 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/Q | 0.9855 | likely_pathogenic | 0.9851 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/R | 0.9821 | likely_pathogenic | 0.9827 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.644652936 | None | None | I |
| G/S | 0.7464 | likely_pathogenic | 0.7579 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/T | 0.9736 | likely_pathogenic | 0.9727 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/V | 0.9869 | likely_pathogenic | 0.9872 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.64485474 | None | None | I |
| G/W | 0.9945 | likely_pathogenic | 0.9951 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/Y | 0.996 | likely_pathogenic | 0.996 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.81 | deleterious | 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.