Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1312 | 4159;4160;4161 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
| N2AB | 1312 | 4159;4160;4161 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
| N2A | 1312 | 4159;4160;4161 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
| N2B | 1266 | 4021;4022;4023 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
| Novex-1 | 1266 | 4021;4022;4023 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
| Novex-2 | 1266 | 4021;4022;4023 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
| Novex-3 | 1312 | 4159;4160;4161 | chr2:178779258;178779257;178779256 | chr2:179643985;179643984;179643983 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/Y | None | None | 1.0 | D | 0.934 | 0.73 | 0.803501258299 | gnomAD-4.0.0 | 2.40083E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62522E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8652 | likely_pathogenic | 0.874 | pathogenic | -2.142 | Highly Destabilizing | 0.998 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/D | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| C/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.441 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| C/F | 0.8365 | likely_pathogenic | 0.8569 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.707777667 | None | None | N |
| C/G | 0.8305 | likely_pathogenic | 0.842 | pathogenic | -2.526 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | D | 0.670049218 | None | None | N |
| C/H | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -2.598 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| C/I | 0.8414 | likely_pathogenic | 0.846 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| C/L | 0.8363 | likely_pathogenic | 0.845 | pathogenic | -1.095 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| C/M | 0.9353 | likely_pathogenic | 0.9397 | pathogenic | 0.233 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| C/N | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| C/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| C/Q | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| C/R | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.934 | deleterious | D | 0.765377427 | None | None | N |
| C/S | 0.915 | likely_pathogenic | 0.9198 | pathogenic | -2.511 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.679437833 | None | None | N |
| C/T | 0.9167 | likely_pathogenic | 0.9223 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| C/V | 0.7053 | likely_pathogenic | 0.7097 | pathogenic | -1.422 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| C/W | 0.9918 | likely_pathogenic | 0.9931 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.765377427 | None | None | N |
| C/Y | 0.9784 | likely_pathogenic | 0.9821 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.934 | deleterious | D | 0.729484635 | 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.