Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10157 | 30694;30695;30696 | chr2:178702210;178702209;178702208 | chr2:179566937;179566936;179566935 |
| N2AB | 9840 | 29743;29744;29745 | chr2:178702210;178702209;178702208 | chr2:179566937;179566936;179566935 |
| N2A | 8913 | 26962;26963;26964 | chr2:178702210;178702209;178702208 | chr2:179566937;179566936;179566935 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | 0.919 | 0.474 | 0.402614778071 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 | 0.9169 | likely_pathogenic | 0.9148 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/C | 0.9841 | likely_pathogenic | 0.9833 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/D | 0.9692 | likely_pathogenic | 0.9674 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/E | 0.963 | likely_pathogenic | 0.9621 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/F | 0.9955 | likely_pathogenic | 0.9949 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/H | 0.9935 | likely_pathogenic | 0.9928 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/I | 0.9916 | likely_pathogenic | 0.9903 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| G/K | 0.9841 | likely_pathogenic | 0.9818 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/L | 0.9905 | likely_pathogenic | 0.989 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/M | 0.9933 | likely_pathogenic | 0.9921 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/N | 0.9762 | likely_pathogenic | 0.9745 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/Q | 0.9757 | likely_pathogenic | 0.9728 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/R | 0.9738 | likely_pathogenic | 0.9701 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| G/S | 0.8655 | likely_pathogenic | 0.8633 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/T | 0.9655 | likely_pathogenic | 0.9658 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/V | 0.9842 | likely_pathogenic | 0.9819 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/W | 0.9911 | likely_pathogenic | 0.9887 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.9916 | likely_pathogenic | 0.9904 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.9 | 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.