Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25278 | 76057;76058;76059 | chr2:178570300;178570299;178570298 | chr2:179435027;179435026;179435025 |
| N2AB | 23637 | 71134;71135;71136 | chr2:178570300;178570299;178570298 | chr2:179435027;179435026;179435025 |
| N2A | 22710 | 68353;68354;68355 | chr2:178570300;178570299;178570298 | chr2:179435027;179435026;179435025 |
| N2B | 16213 | 48862;48863;48864 | chr2:178570300;178570299;178570298 | chr2:179435027;179435026;179435025 |
| Novex-1 | 16338 | 49237;49238;49239 | chr2:178570300;178570299;178570298 | chr2:179435027;179435026;179435025 |
| Novex-2 | 16405 | 49438;49439;49440 | chr2:178570300;178570299;178570298 | chr2:179435027;179435026;179435025 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs777445126  |
-1.588 | 1.0 | D | 0.829 | 0.612 | 0.681897276349 | gnomAD-2.1.1 | 4.44E-05 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 1.68767E-04 | None | 6.54E-05 | None | 0 | 4.47E-05 | 0 |
| R/C | rs777445126 |
-1.588 | 1.0 | D | 0.829 | 0.612 | 0.681897276349 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93573E-04 | None | 0 | 0 | 1.47E-05 | 2.07125E-04 | 0 |
| R/C | rs777445126 |
-1.588 | 1.0 | D | 0.829 | 0.612 | 0.681897276349 | gnomAD-4.0.0 | 2.35567E-05 | None | None | None | None | N | None | 0 | 1.66906E-05 | None | 0 | 1.34198E-04 | None | 0 | 3.28839E-04 | 2.11936E-05 | 3.29417E-05 | 1.6021E-05 |
| R/H | rs769729114 |
-2.329 | 1.0 | D | 0.803 | 0.711 | 0.662284845153 | gnomAD-2.1.1 | 4.66E-05 | None | None | None | None | N | None | 0 | 2.26937E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.93E-05 | 0 |
| R/H | rs769729114 |
-2.329 | 1.0 | D | 0.803 | 0.711 | 0.662284845153 | gnomAD-3.1.2 | 1.11802E-04 | None | None | None | None | N | None | 0 | 1.04904E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/H | rs769729114 |
-2.329 | 1.0 | D | 0.803 | 0.711 | 0.662284845153 | gnomAD-4.0.0 | 4.40129E-05 | None | None | None | None | N | None | 0 | 3.83794E-04 | None | 0 | 0 | None | 0 | 0 | 3.81486E-05 | 2.19597E-05 | 1.6019E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.985 | likely_pathogenic | 0.9908 | pathogenic | -1.85 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| R/C | 0.6516 | likely_pathogenic | 0.7305 | pathogenic | -1.724 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.540906331 | None | None | N |
| R/D | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| R/E | 0.9731 | likely_pathogenic | 0.9811 | pathogenic | -0.945 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| R/F | 0.9916 | likely_pathogenic | 0.9952 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| R/G | 0.9707 | likely_pathogenic | 0.9821 | pathogenic | -2.144 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.547236207 | None | None | N |
| R/H | 0.5071 | ambiguous | 0.5729 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.559010586 | None | None | N |
| R/I | 0.9689 | likely_pathogenic | 0.9811 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| R/K | 0.5497 | ambiguous | 0.6515 | pathogenic | -1.316 | Destabilizing | 0.998 | D | 0.662 | neutral | None | None | None | None | N |
| R/L | 0.9365 | likely_pathogenic | 0.9558 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.766 | deleterious | N | 0.521156235 | None | None | N |
| R/M | 0.9725 | likely_pathogenic | 0.9846 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| R/N | 0.9893 | likely_pathogenic | 0.9931 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| R/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.559264076 | None | None | N |
| R/Q | 0.5145 | ambiguous | 0.5902 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/S | 0.9859 | likely_pathogenic | 0.9905 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.517607381 | None | None | N |
| R/T | 0.9841 | likely_pathogenic | 0.9899 | pathogenic | -1.689 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| R/V | 0.976 | likely_pathogenic | 0.9853 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| R/W | 0.8745 | likely_pathogenic | 0.9035 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| R/Y | 0.972 | likely_pathogenic | 0.9818 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.862 | 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.