Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4921 | 14986;14987;14988 | chr2:178735685;178735684;178735683 | chr2:179600412;179600411;179600410 |
| N2AB | 4604 | 14035;14036;14037 | chr2:178735685;178735684;178735683 | chr2:179600412;179600411;179600410 |
| N2A | 3677 | 11254;11255;11256 | chr2:178735685;178735684;178735683 | chr2:179600412;179600411;179600410 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs769723198  |
-1.862 | 1.0 | D | 0.875 | 0.93 | 0.951808353149 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs769723198 |
-1.862 | 1.0 | D | 0.875 | 0.93 | 0.951808353149 | 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 |
| W/R | rs769723198 |
-1.862 | 1.0 | D | 0.875 | 0.93 | 0.951808353149 | gnomAD-4.0.0 | 1.8591E-06 | None | None | None | None | N | None | 2.66916E-05 | 1.66711E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9751 | likely_pathogenic | 0.9821 | pathogenic | -2.795 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/C | 0.9781 | likely_pathogenic | 0.9844 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.762873533 | None | None | N |
| W/D | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.6 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/E | 0.9984 | likely_pathogenic | 0.999 | pathogenic | -2.463 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/F | 0.4671 | ambiguous | 0.4657 | ambiguous | -1.649 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/G | 0.947 | likely_pathogenic | 0.9644 | pathogenic | -3.056 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.762928912 | None | None | N |
| W/H | 0.994 | likely_pathogenic | 0.9959 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/I | 0.8956 | likely_pathogenic | 0.917 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/K | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.174 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/L | 0.8243 | likely_pathogenic | 0.8527 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.762928912 | None | None | N |
| W/M | 0.95 | likely_pathogenic | 0.9619 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/N | 0.9982 | likely_pathogenic | 0.9988 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/P | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| W/Q | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/R | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -2.012 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.762873533 | None | None | N |
| W/S | 0.9779 | likely_pathogenic | 0.9847 | pathogenic | -3.118 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.762873533 | None | None | N |
| W/T | 0.9836 | likely_pathogenic | 0.9884 | pathogenic | -2.913 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/V | 0.8901 | likely_pathogenic | 0.9104 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/Y | 0.8446 | likely_pathogenic | 0.865 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.808 | 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.