Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5730 | 17413;17414;17415 | chr2:178731578;178731577;178731576 | chr2:179596305;179596304;179596303 |
| N2AB | 5413 | 16462;16463;16464 | chr2:178731578;178731577;178731576 | chr2:179596305;179596304;179596303 |
| N2A | 4486 | 13681;13682;13683 | chr2:178731578;178731577;178731576 | chr2:179596305;179596304;179596303 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.998 | D | 0.817 | 0.655 | 0.626855883447 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | None | None | 0.998 | D | 0.817 | 0.655 | 0.626855883447 | gnomAD-4.0.0 | 6.57557E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs779187099  |
-0.32 | 0.64 | D | 0.773 | 0.629 | 0.837822526163 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | N | None | 6.52E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs779187099 |
-0.32 | 0.64 | D | 0.773 | 0.629 | 0.837822526163 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs779187099 |
-0.32 | 0.64 | D | 0.773 | 0.629 | 0.837822526163 | gnomAD-4.0.0 | 2.50317E-06 | None | None | None | None | N | None | 4.0428E-05 | 0 | None | 0 | 0 | None | 0 | 1.6728E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7019 | likely_pathogenic | 0.7346 | pathogenic | -1.814 | Destabilizing | 0.998 | D | 0.817 | deleterious | D | 0.584277614 | None | None | N |
| P/C | 0.9867 | likely_pathogenic | 0.9871 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9992 | pathogenic | -1.869 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/E | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -1.789 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/F | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/G | 0.9889 | likely_pathogenic | 0.9904 | pathogenic | -2.202 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/H | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -1.716 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/I | 0.9512 | likely_pathogenic | 0.9529 | pathogenic | -0.805 | Destabilizing | 0.998 | D | 0.885 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/L | 0.9016 | likely_pathogenic | 0.9199 | pathogenic | -0.805 | Destabilizing | 0.64 | D | 0.773 | deleterious | D | 0.594199973 | None | None | N |
| P/M | 0.9894 | likely_pathogenic | 0.9912 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Q | 0.9938 | likely_pathogenic | 0.9945 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.610421138 | None | None | N |
| P/R | 0.9936 | likely_pathogenic | 0.9936 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.610421138 | None | None | N |
| P/S | 0.9703 | likely_pathogenic | 0.9738 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.610017529 | None | None | N |
| P/T | 0.953 | likely_pathogenic | 0.9561 | pathogenic | -1.769 | Destabilizing | 0.999 | D | 0.879 | deleterious | D | 0.610219334 | None | None | N |
| P/V | 0.8663 | likely_pathogenic | 0.8708 | pathogenic | -1.11 | Destabilizing | 0.998 | D | 0.87 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.533 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.207 | 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.