Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23411 | 70456;70457;70458 | chr2:178575901;178575900;178575899 | chr2:179440628;179440627;179440626 |
| N2AB | 21770 | 65533;65534;65535 | chr2:178575901;178575900;178575899 | chr2:179440628;179440627;179440626 |
| N2A | 20843 | 62752;62753;62754 | chr2:178575901;178575900;178575899 | chr2:179440628;179440627;179440626 |
| N2B | 14346 | 43261;43262;43263 | chr2:178575901;178575900;178575899 | chr2:179440628;179440627;179440626 |
| Novex-1 | 14471 | 43636;43637;43638 | chr2:178575901;178575900;178575899 | chr2:179440628;179440627;179440626 |
| Novex-2 | 14538 | 43837;43838;43839 | chr2:178575901;178575900;178575899 | chr2:179440628;179440627;179440626 |
| 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/S | rs767075037  |
-0.848 | 1.0 | D | 0.847 | 0.752 | 0.566666267248 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/S | rs767075037 |
-0.848 | 1.0 | D | 0.847 | 0.752 | 0.566666267248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs767075037 |
-0.848 | 1.0 | D | 0.847 | 0.752 | 0.566666267248 | gnomAD-4.0.0 | 9.29723E-06 | None | None | None | None | I | None | 1.33529E-05 | 1.66744E-05 | None | 0 | 0 | None | 0 | 0 | 9.32524E-06 | 1.0981E-05 | 1.60149E-05 |
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 | 0.7674 | likely_pathogenic | 0.8656 | pathogenic | -0.615 | Destabilizing | 0.991 | D | 0.748 | deleterious | D | 0.574701732 | None | None | I |
| G/C | 0.9546 | likely_pathogenic | 0.9769 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.619316629 | None | None | I |
| G/D | 0.9744 | likely_pathogenic | 0.9836 | pathogenic | -0.808 | Destabilizing | 0.999 | D | 0.833 | deleterious | D | 0.61891302 | None | None | I |
| G/E | 0.9871 | likely_pathogenic | 0.9923 | pathogenic | -0.878 | Destabilizing | 0.998 | D | 0.841 | deleterious | None | None | None | None | I |
| G/F | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/H | 0.996 | likely_pathogenic | 0.9979 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/I | 0.997 | likely_pathogenic | 0.9984 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/K | 0.9951 | likely_pathogenic | 0.9972 | pathogenic | -1.104 | Destabilizing | 0.996 | D | 0.837 | deleterious | None | None | None | None | I |
| G/L | 0.9937 | likely_pathogenic | 0.9963 | pathogenic | -0.273 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9955 | likely_pathogenic | 0.9976 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/N | 0.9824 | likely_pathogenic | 0.9907 | pathogenic | -0.753 | Destabilizing | 0.998 | D | 0.846 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/Q | 0.9841 | likely_pathogenic | 0.9904 | pathogenic | -0.926 | Destabilizing | 0.998 | D | 0.837 | deleterious | None | None | None | None | I |
| G/R | 0.983 | likely_pathogenic | 0.9902 | pathogenic | -0.817 | Destabilizing | 0.827 | D | 0.743 | deleterious | D | 0.619114824 | None | None | I |
| G/S | 0.7158 | likely_pathogenic | 0.8361 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.60245969 | None | None | I |
| G/T | 0.9722 | likely_pathogenic | 0.9858 | pathogenic | -1.025 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | I |
| G/V | 0.9903 | likely_pathogenic | 0.9947 | pathogenic | -0.345 | Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.619316629 | None | None | I |
| G/W | 0.9959 | likely_pathogenic | 0.9976 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Y | 0.9967 | likely_pathogenic | 0.9981 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.835 | 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.