Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33521 | 100786;100787;100788 | chr2:178536186;178536185;178536184 | chr2:179400913;179400912;179400911 |
| N2AB | 31880 | 95863;95864;95865 | chr2:178536186;178536185;178536184 | chr2:179400913;179400912;179400911 |
| N2A | 30953 | 93082;93083;93084 | chr2:178536186;178536185;178536184 | chr2:179400913;179400912;179400911 |
| N2B | 24456 | 73591;73592;73593 | chr2:178536186;178536185;178536184 | chr2:179400913;179400912;179400911 |
| Novex-1 | 24581 | 73966;73967;73968 | chr2:178536186;178536185;178536184 | chr2:179400913;179400912;179400911 |
| Novex-2 | 24648 | 74167;74168;74169 | chr2:178536186;178536185;178536184 | chr2:179400913;179400912;179400911 |
| 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/D | rs370516977  |
-2.046 | 1.0 | D | 0.837 | 0.821 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 4E-05 | 7.84E-06 | 0 |
| G/D | rs370516977 |
-2.046 | 1.0 | D | 0.837 | 0.821 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs370516977 |
-2.046 | 1.0 | D | 0.837 | 0.821 | None | gnomAD-4.0.0 | 4.33872E-06 | None | None | None | None | N | None | 1.33494E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39087E-06 | 0 | 3.20349E-05 |
| G/R | rs1159933027 |
None | 1.0 | D | 0.825 | 0.863 | 0.801866974335 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| G/R | rs1159933027 |
None | 1.0 | D | 0.825 | 0.863 | 0.801866974335 | gnomAD-4.0.0 | 6.84357E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15993E-05 | 0 |
| G/S | rs1159933027 |
-1.054 | 1.0 | D | 0.842 | 0.835 | 0.547638893815 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/S | rs1159933027 |
-1.054 | 1.0 | D | 0.842 | 0.835 | 0.547638893815 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs1159933027 |
-1.054 | 1.0 | D | 0.842 | 0.835 | 0.547638893815 | gnomAD-4.0.0 | 7.43783E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01725E-05 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.791 | 0.802 | 0.777110454526 | gnomAD-4.0.0 | 6.84351E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99583E-07 | 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 | 0.9474 | likely_pathogenic | 0.9414 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.549767238 | None | None | N |
| G/C | 0.9915 | likely_pathogenic | 0.9907 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.613773243 | None | None | N |
| G/D | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.637868364 | None | None | N |
| G/E | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.762 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/F | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/H | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/L | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/M | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.109 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/N | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/Q | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.638675581 | None | None | N |
| G/S | 0.9526 | likely_pathogenic | 0.951 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.575385712 | None | None | N |
| G/T | 0.9954 | likely_pathogenic | 0.9952 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/V | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.62265622 | None | None | N |
| G/W | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.766 | 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.