Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2578 | 7957;7958;7959 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
| N2AB | 2578 | 7957;7958;7959 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
| N2A | 2578 | 7957;7958;7959 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
| N2B | 2532 | 7819;7820;7821 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
| Novex-1 | 2532 | 7819;7820;7821 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
| Novex-2 | 2532 | 7819;7820;7821 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
| Novex-3 | 2578 | 7957;7958;7959 | chr2:178773232;178773231;178773230 | chr2:179637959;179637958;179637957 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/D | None | None | 0.999 | D | 0.82 | 0.813 | 0.770770840146 | gnomAD-4.0.0 | 6.84179E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99345E-07 | 0 | 0 |
| Y/H | rs754592016  |
-2.031 | 0.999 | N | 0.703 | 0.585 | 0.407632638399 | gnomAD-2.1.1 | 2.8E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.19E-05 | 0 |
| Y/H | rs754592016 |
-2.031 | 0.999 | N | 0.703 | 0.585 | 0.407632638399 | gnomAD-4.0.0 | 8.21015E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07921E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9326 | likely_pathogenic | 0.9074 | pathogenic | -2.788 | Highly Destabilizing | 0.992 | D | 0.59 | neutral | None | None | None | None | N |
| Y/C | 0.4169 | ambiguous | 0.3915 | ambiguous | -1.924 | Destabilizing | 0.391 | N | 0.425 | neutral | D | 0.572807245 | None | None | N |
| Y/D | 0.9102 | likely_pathogenic | 0.8735 | pathogenic | -2.349 | Highly Destabilizing | 0.999 | D | 0.82 | deleterious | D | 0.677362288 | None | None | N |
| Y/E | 0.9506 | likely_pathogenic | 0.9306 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| Y/F | 0.1728 | likely_benign | 0.168 | benign | -1.096 | Destabilizing | 0.998 | D | 0.506 | neutral | N | 0.504011078 | None | None | N |
| Y/G | 0.8901 | likely_pathogenic | 0.861 | pathogenic | -3.205 | Highly Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| Y/H | 0.4796 | ambiguous | 0.4316 | ambiguous | -1.778 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.513640922 | None | None | N |
| Y/I | 0.7793 | likely_pathogenic | 0.7188 | pathogenic | -1.446 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| Y/K | 0.9501 | likely_pathogenic | 0.9245 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| Y/L | 0.7461 | likely_pathogenic | 0.7031 | pathogenic | -1.446 | Destabilizing | 0.992 | D | 0.543 | neutral | None | None | None | None | N |
| Y/M | 0.8518 | likely_pathogenic | 0.8212 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| Y/N | 0.6146 | likely_pathogenic | 0.5396 | ambiguous | -2.752 | Highly Destabilizing | 0.999 | D | 0.801 | deleterious | D | 0.637564571 | None | None | N |
| Y/P | 0.9938 | likely_pathogenic | 0.9905 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/Q | 0.9067 | likely_pathogenic | 0.8694 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| Y/R | 0.8876 | likely_pathogenic | 0.8452 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/S | 0.831 | likely_pathogenic | 0.7554 | pathogenic | -3.249 | Highly Destabilizing | 0.998 | D | 0.712 | prob.delet. | D | 0.635686932 | None | None | N |
| Y/T | 0.8816 | likely_pathogenic | 0.8115 | pathogenic | -2.947 | Highly Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Y/V | 0.6913 | likely_pathogenic | 0.6228 | pathogenic | -1.901 | Destabilizing | 0.992 | D | 0.621 | neutral | None | None | None | None | N |
| Y/W | 0.62 | likely_pathogenic | 0.5816 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | 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.