Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18666 | 56221;56222;56223 | chr2:178600908;178600907;178600906 | chr2:179465635;179465634;179465633 |
| N2AB | 17025 | 51298;51299;51300 | chr2:178600908;178600907;178600906 | chr2:179465635;179465634;179465633 |
| N2A | 16098 | 48517;48518;48519 | chr2:178600908;178600907;178600906 | chr2:179465635;179465634;179465633 |
| N2B | 9601 | 29026;29027;29028 | chr2:178600908;178600907;178600906 | chr2:179465635;179465634;179465633 |
| Novex-1 | 9726 | 29401;29402;29403 | chr2:178600908;178600907;178600906 | chr2:179465635;179465634;179465633 |
| Novex-2 | 9793 | 29602;29603;29604 | chr2:178600908;178600907;178600906 | chr2:179465635;179465634;179465633 |
| 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/E | rs757529178  |
-0.876 | 1.0 | D | 0.913 | 0.738 | 0.798634414286 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| G/R | rs779053249 |
-0.368 | 1.0 | D | 0.919 | 0.742 | 0.846262640215 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs779053249 |
-0.368 | 1.0 | D | 0.919 | 0.742 | 0.846262640215 | gnomAD-4.0.0 | 2.73814E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59934E-06 | 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 | 0.7532 | likely_pathogenic | 0.7097 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.536868904 | None | None | I |
| G/C | 0.9378 | likely_pathogenic | 0.9289 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/D | 0.9619 | likely_pathogenic | 0.9605 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | I |
| G/E | 0.9773 | likely_pathogenic | 0.9759 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.56336695 | None | None | I |
| G/F | 0.9918 | likely_pathogenic | 0.9895 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/H | 0.9865 | likely_pathogenic | 0.9849 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9915 | likely_pathogenic | 0.987 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/K | 0.9863 | likely_pathogenic | 0.9865 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/L | 0.9846 | likely_pathogenic | 0.9795 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/M | 0.9888 | likely_pathogenic | 0.9843 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/N | 0.961 | likely_pathogenic | 0.9531 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/Q | 0.9735 | likely_pathogenic | 0.9712 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.961 | likely_pathogenic | 0.9612 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.545516184 | None | None | I |
| G/S | 0.7078 | likely_pathogenic | 0.6681 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/T | 0.9465 | likely_pathogenic | 0.9336 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/V | 0.9774 | likely_pathogenic | 0.9667 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.540996734 | None | None | I |
| G/W | 0.9871 | likely_pathogenic | 0.986 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9873 | likely_pathogenic | 0.985 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.898 | 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.