Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29520 | 88783;88784;88785 | chr2:178554901;178554900;178554899 | chr2:179419628;179419627;179419626 |
| N2AB | 27879 | 83860;83861;83862 | chr2:178554901;178554900;178554899 | chr2:179419628;179419627;179419626 |
| N2A | 26952 | 81079;81080;81081 | chr2:178554901;178554900;178554899 | chr2:179419628;179419627;179419626 |
| N2B | 20455 | 61588;61589;61590 | chr2:178554901;178554900;178554899 | chr2:179419628;179419627;179419626 |
| Novex-1 | 20580 | 61963;61964;61965 | chr2:178554901;178554900;178554899 | chr2:179419628;179419627;179419626 |
| Novex-2 | 20647 | 62164;62165;62166 | chr2:178554901;178554900;178554899 | chr2:179419628;179419627;179419626 |
| 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 | None | None | 1.0 | D | 0.889 | 0.723 | 0.735079807728 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 | 0.755 | likely_pathogenic | 0.6979 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.566011635 | None | None | I |
| G/C | 0.91 | likely_pathogenic | 0.8816 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.572562247 | None | None | I |
| G/D | 0.9081 | likely_pathogenic | 0.8746 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.586967174 | None | None | I |
| G/E | 0.9502 | likely_pathogenic | 0.9285 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | I |
| G/F | 0.984 | likely_pathogenic | 0.9769 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/H | 0.9737 | likely_pathogenic | 0.9628 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/I | 0.98 | likely_pathogenic | 0.9691 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/K | 0.9752 | likely_pathogenic | 0.9687 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/L | 0.9737 | likely_pathogenic | 0.9638 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/M | 0.9862 | likely_pathogenic | 0.9805 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/N | 0.9367 | likely_pathogenic | 0.9214 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9976 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/Q | 0.9569 | likely_pathogenic | 0.9441 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/R | 0.9487 | likely_pathogenic | 0.9333 | pathogenic | -0.237 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.587572587 | None | None | I |
| G/S | 0.6925 | likely_pathogenic | 0.6406 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.58676537 | None | None | I |
| G/T | 0.9206 | likely_pathogenic | 0.894 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/V | 0.9547 | likely_pathogenic | 0.9332 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.588178 | None | None | I |
| G/W | 0.9821 | likely_pathogenic | 0.9713 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/Y | 0.9684 | likely_pathogenic | 0.9541 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.858 | 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.