Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27963 | 84112;84113;84114 | chr2:178562245;178562244;178562243 | chr2:179426972;179426971;179426970 |
| N2AB | 26322 | 79189;79190;79191 | chr2:178562245;178562244;178562243 | chr2:179426972;179426971;179426970 |
| N2A | 25395 | 76408;76409;76410 | chr2:178562245;178562244;178562243 | chr2:179426972;179426971;179426970 |
| N2B | 18898 | 56917;56918;56919 | chr2:178562245;178562244;178562243 | chr2:179426972;179426971;179426970 |
| Novex-1 | 19023 | 57292;57293;57294 | chr2:178562245;178562244;178562243 | chr2:179426972;179426971;179426970 |
| Novex-2 | 19090 | 57493;57494;57495 | chr2:178562245;178562244;178562243 | chr2:179426972;179426971;179426970 |
| 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 | 1.0 | D | 0.708 | 0.589 | 0.699206367509 | gnomAD-4.0.0 | 1.59311E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86007E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6488 | likely_pathogenic | 0.6611 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.614923348 | None | None | N |
| P/C | 0.9777 | likely_pathogenic | 0.978 | pathogenic | -1.233 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| P/D | 0.9924 | likely_pathogenic | 0.9929 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/E | 0.985 | likely_pathogenic | 0.9867 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/F | 0.997 | likely_pathogenic | 0.9973 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/G | 0.9498 | likely_pathogenic | 0.9505 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/H | 0.9871 | likely_pathogenic | 0.9883 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | D | 0.61552876 | None | None | N |
| P/I | 0.9664 | likely_pathogenic | 0.9672 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/K | 0.9929 | likely_pathogenic | 0.9933 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/L | 0.8756 | likely_pathogenic | 0.8789 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.615326956 | None | None | N |
| P/M | 0.9807 | likely_pathogenic | 0.981 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| P/N | 0.9872 | likely_pathogenic | 0.9872 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/Q | 0.9766 | likely_pathogenic | 0.9789 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| P/R | 0.9793 | likely_pathogenic | 0.9817 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.61552876 | None | None | N |
| P/S | 0.9343 | likely_pathogenic | 0.9398 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.772 | deleterious | D | 0.615125152 | None | None | N |
| P/T | 0.9073 | likely_pathogenic | 0.9115 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.615326956 | None | None | N |
| P/V | 0.9076 | likely_pathogenic | 0.9122 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/W | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.757 | 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.