Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27655 | 83188;83189;83190 | chr2:178563169;178563168;178563167 | chr2:179427896;179427895;179427894 |
| N2AB | 26014 | 78265;78266;78267 | chr2:178563169;178563168;178563167 | chr2:179427896;179427895;179427894 |
| N2A | 25087 | 75484;75485;75486 | chr2:178563169;178563168;178563167 | chr2:179427896;179427895;179427894 |
| N2B | 18590 | 55993;55994;55995 | chr2:178563169;178563168;178563167 | chr2:179427896;179427895;179427894 |
| Novex-1 | 18715 | 56368;56369;56370 | chr2:178563169;178563168;178563167 | chr2:179427896;179427895;179427894 |
| Novex-2 | 18782 | 56569;56570;56571 | chr2:178563169;178563168;178563167 | chr2:179427896;179427895;179427894 |
| 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/C | None | None | 1.0 | D | 0.859 | 0.793 | 0.798117879876 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87266E-05 | 0 | 0 | 0 | 0 |
| G/D | rs373745130  |
-1.753 | 1.0 | D | 0.863 | 0.779 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| G/D | rs373745130 |
-1.753 | 1.0 | D | 0.863 | 0.779 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs373745130 |
-1.753 | 1.0 | D | 0.863 | 0.779 | None | gnomAD-4.0.0 | 1.23946E-05 | None | None | None | None | N | None | 1.33522E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35625E-05 | 0 | 4.80354E-05 |
| G/S | None | None | 1.0 | N | 0.808 | 0.57 | 0.236890367714 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99517E-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 | 0.758 | likely_pathogenic | 0.7385 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.540189223 | None | None | N |
| G/C | 0.9471 | likely_pathogenic | 0.9372 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.553319955 | None | None | N |
| G/D | 0.9866 | likely_pathogenic | 0.9832 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.540949692 | None | None | N |
| G/E | 0.9908 | likely_pathogenic | 0.988 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/F | 0.9977 | likely_pathogenic | 0.9973 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.9948 | likely_pathogenic | 0.9932 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/I | 0.9965 | likely_pathogenic | 0.9952 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/K | 0.9974 | likely_pathogenic | 0.9964 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/L | 0.9934 | likely_pathogenic | 0.9924 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/M | 0.9949 | likely_pathogenic | 0.9941 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.987 | likely_pathogenic | 0.985 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/Q | 0.9923 | likely_pathogenic | 0.9898 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/R | 0.9918 | likely_pathogenic | 0.9889 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.534455232 | None | None | N |
| G/S | 0.3419 | ambiguous | 0.3368 | benign | -1.4 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.454395612 | None | None | N |
| G/T | 0.9258 | likely_pathogenic | 0.9109 | pathogenic | -1.382 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/V | 0.9911 | likely_pathogenic | 0.9881 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.552812976 | None | None | N |
| G/W | 0.9928 | likely_pathogenic | 0.9894 | pathogenic | -1.529 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Y | 0.9969 | likely_pathogenic | 0.9961 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.865 | 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.