Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18792 | 56599;56600;56601 | chr2:178599419;178599418;178599417 | chr2:179464146;179464145;179464144 |
| N2AB | 17151 | 51676;51677;51678 | chr2:178599419;178599418;178599417 | chr2:179464146;179464145;179464144 |
| N2A | 16224 | 48895;48896;48897 | chr2:178599419;178599418;178599417 | chr2:179464146;179464145;179464144 |
| N2B | 9727 | 29404;29405;29406 | chr2:178599419;178599418;178599417 | chr2:179464146;179464145;179464144 |
| Novex-1 | 9852 | 29779;29780;29781 | chr2:178599419;178599418;178599417 | chr2:179464146;179464145;179464144 |
| Novex-2 | 9919 | 29980;29981;29982 | chr2:178599419;178599418;178599417 | chr2:179464146;179464145;179464144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs794729241  |
None | 0.994 | D | 0.663 | 0.265 | 0.43912465853 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs794729241 |
None | 0.994 | D | 0.663 | 0.265 | 0.43912465853 | gnomAD-4.0.0 | 3.85881E-06 | None | None | None | None | N | None | 1.3762E-05 | 1.96998E-05 | None | 0 | 0 | None | 0 | 0 | 2.60122E-06 | 0 | 1.66884E-05 |
| I/T | rs779588814 |
-2.863 | 0.98 | N | 0.761 | 0.467 | 0.625329643188 | gnomAD-2.1.1 | 4.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.05E-05 | 0 |
| I/T | rs779588814 |
-2.863 | 0.98 | N | 0.761 | 0.467 | 0.625329643188 | gnomAD-4.0.0 | 1.42637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.56911E-05 | None | 0 | 0 | 0 | 0 | 1.73022E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8159 | likely_pathogenic | 0.8358 | pathogenic | -1.85 | Destabilizing | 0.985 | D | 0.739 | prob.delet. | None | None | None | None | N |
| I/C | 0.8929 | likely_pathogenic | 0.9023 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| I/D | 0.996 | likely_pathogenic | 0.9965 | pathogenic | -1.726 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| I/E | 0.9886 | likely_pathogenic | 0.99 | pathogenic | -1.448 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| I/F | 0.5945 | likely_pathogenic | 0.6596 | pathogenic | -0.868 | Destabilizing | 0.996 | D | 0.727 | prob.delet. | None | None | None | None | N |
| I/G | 0.9762 | likely_pathogenic | 0.9781 | pathogenic | -2.436 | Highly Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| I/H | 0.9897 | likely_pathogenic | 0.9907 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| I/K | 0.9812 | likely_pathogenic | 0.9826 | pathogenic | -1.152 | Destabilizing | 0.999 | D | 0.825 | deleterious | N | 0.492070387 | None | None | N |
| I/L | 0.1744 | likely_benign | 0.194 | benign | -0.154 | Destabilizing | 0.061 | N | 0.289 | neutral | N | 0.439393582 | None | None | N |
| I/M | 0.2307 | likely_benign | 0.3016 | benign | -0.331 | Destabilizing | 0.994 | D | 0.663 | neutral | D | 0.522175255 | None | None | N |
| I/N | 0.9628 | likely_pathogenic | 0.9628 | pathogenic | -1.569 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| I/P | 0.9266 | likely_pathogenic | 0.9335 | pathogenic | -0.7 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| I/Q | 0.9806 | likely_pathogenic | 0.9827 | pathogenic | -1.271 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| I/R | 0.9734 | likely_pathogenic | 0.9751 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.469193192 | None | None | N |
| I/S | 0.9361 | likely_pathogenic | 0.938 | pathogenic | -2.31 | Highly Destabilizing | 0.998 | D | 0.753 | deleterious | None | None | None | None | N |
| I/T | 0.8968 | likely_pathogenic | 0.9021 | pathogenic | -1.863 | Destabilizing | 0.98 | D | 0.761 | deleterious | N | 0.476421667 | None | None | N |
| I/V | 0.0714 | likely_benign | 0.0717 | benign | -0.7 | Destabilizing | 0.4 | N | 0.239 | neutral | N | 0.437052284 | None | None | N |
| I/W | 0.9862 | likely_pathogenic | 0.9889 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/Y | 0.9621 | likely_pathogenic | 0.9647 | pathogenic | -0.874 | Destabilizing | 0.999 | D | 0.749 | 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.