Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27553 | 82882;82883;82884 | chr2:178563475;178563474;178563473 | chr2:179428202;179428201;179428200 |
| N2AB | 25912 | 77959;77960;77961 | chr2:178563475;178563474;178563473 | chr2:179428202;179428201;179428200 |
| N2A | 24985 | 75178;75179;75180 | chr2:178563475;178563474;178563473 | chr2:179428202;179428201;179428200 |
| N2B | 18488 | 55687;55688;55689 | chr2:178563475;178563474;178563473 | chr2:179428202;179428201;179428200 |
| Novex-1 | 18613 | 56062;56063;56064 | chr2:178563475;178563474;178563473 | chr2:179428202;179428201;179428200 |
| Novex-2 | 18680 | 56263;56264;56265 | chr2:178563475;178563474;178563473 | chr2:179428202;179428201;179428200 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs753766297  |
-0.871 | 0.983 | D | 0.687 | 0.64 | 0.37550373646 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs753766297 |
-0.871 | 0.983 | D | 0.687 | 0.64 | 0.37550373646 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52258E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | None | None | 0.995 | D | 0.893 | 0.68 | 0.662413160851 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99484E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5999 | likely_pathogenic | 0.5851 | pathogenic | -0.816 | Destabilizing | 0.983 | D | 0.687 | prob.neutral | D | 0.545677088 | None | None | N |
| G/C | 0.849 | likely_pathogenic | 0.8536 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/D | 0.9774 | likely_pathogenic | 0.9742 | pathogenic | -1.599 | Destabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| G/E | 0.9807 | likely_pathogenic | 0.9792 | pathogenic | -1.674 | Destabilizing | 0.995 | D | 0.893 | deleterious | D | 0.556779903 | None | None | N |
| G/F | 0.9944 | likely_pathogenic | 0.9942 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/H | 0.9865 | likely_pathogenic | 0.9853 | pathogenic | -1.398 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/I | 0.9898 | likely_pathogenic | 0.9886 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/K | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -1.421 | Destabilizing | 0.713 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/L | 0.9832 | likely_pathogenic | 0.9823 | pathogenic | -0.5 | Destabilizing | 0.998 | D | 0.904 | deleterious | None | None | None | None | N |
| G/M | 0.9867 | likely_pathogenic | 0.9876 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/N | 0.9721 | likely_pathogenic | 0.9712 | pathogenic | -1.058 | Destabilizing | 0.998 | D | 0.854 | deleterious | None | None | None | None | N |
| G/P | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -0.566 | Destabilizing | 0.999 | D | 0.903 | deleterious | None | None | None | None | N |
| G/Q | 0.9807 | likely_pathogenic | 0.9808 | pathogenic | -1.299 | Destabilizing | 0.998 | D | 0.907 | deleterious | None | None | None | None | N |
| G/R | 0.9793 | likely_pathogenic | 0.9779 | pathogenic | -1.025 | Destabilizing | 0.995 | D | 0.909 | deleterious | D | 0.538422159 | None | None | N |
| G/S | 0.2121 | likely_benign | 0.2244 | benign | -1.236 | Destabilizing | 0.998 | D | 0.824 | deleterious | None | None | None | None | N |
| G/T | 0.814 | likely_pathogenic | 0.8092 | pathogenic | -1.252 | Destabilizing | 0.998 | D | 0.907 | deleterious | None | None | None | None | N |
| G/V | 0.9734 | likely_pathogenic | 0.9719 | pathogenic | -0.566 | Destabilizing | 0.997 | D | 0.902 | deleterious | D | 0.546184067 | None | None | N |
| G/W | 0.9777 | likely_pathogenic | 0.9776 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Y | 0.9906 | likely_pathogenic | 0.9898 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.907 | 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.