Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33299 | 100120;100121;100122 | chr2:178537214;178537213;178537212 | chr2:179401941;179401940;179401939 |
| N2AB | 31658 | 95197;95198;95199 | chr2:178537214;178537213;178537212 | chr2:179401941;179401940;179401939 |
| N2A | 30731 | 92416;92417;92418 | chr2:178537214;178537213;178537212 | chr2:179401941;179401940;179401939 |
| N2B | 24234 | 72925;72926;72927 | chr2:178537214;178537213;178537212 | chr2:179401941;179401940;179401939 |
| Novex-1 | 24359 | 73300;73301;73302 | chr2:178537214;178537213;178537212 | chr2:179401941;179401940;179401939 |
| Novex-2 | 24426 | 73501;73502;73503 | chr2:178537214;178537213;178537212 | chr2:179401941;179401940;179401939 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs794729554  |
-1.205 | 0.998 | N | 0.615 | 0.38 | 0.619797697146 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| V/A | rs794729554 |
-1.205 | 0.998 | N | 0.615 | 0.38 | 0.619797697146 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs794729554 |
-1.205 | 0.998 | N | 0.615 | 0.38 | 0.619797697146 | gnomAD-4.0.0 | 3.86181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.22958E-06 | 0 | 0 |
| V/M | None | None | 0.999 | N | 0.804 | 0.383 | 0.555673547925 | gnomAD-4.0.0 | 1.6051E-06 | None | None | None | None | N | None | 5.6993E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2199 | likely_benign | 0.2365 | benign | -0.903 | Destabilizing | 0.998 | D | 0.615 | neutral | N | 0.486254527 | None | None | N |
| V/C | 0.7511 | likely_pathogenic | 0.774 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/D | 0.4455 | ambiguous | 0.4525 | ambiguous | -0.453 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/E | 0.3292 | likely_benign | 0.3132 | benign | -0.499 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.464807393 | None | None | N |
| V/F | 0.2033 | likely_benign | 0.2252 | benign | -0.734 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| V/G | 0.3049 | likely_benign | 0.3319 | benign | -1.14 | Destabilizing | 1.0 | D | 0.854 | deleterious | N | 0.516908295 | None | None | N |
| V/H | 0.5582 | ambiguous | 0.5686 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/I | 0.0761 | likely_benign | 0.0859 | benign | -0.391 | Destabilizing | 0.813 | D | 0.317 | neutral | None | None | None | None | N |
| V/K | 0.4114 | ambiguous | 0.3851 | ambiguous | -0.794 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/L | 0.189 | likely_benign | 0.2187 | benign | -0.391 | Destabilizing | 0.981 | D | 0.502 | neutral | N | 0.487353392 | None | None | N |
| V/M | 0.1564 | likely_benign | 0.1845 | benign | -0.441 | Destabilizing | 0.999 | D | 0.804 | deleterious | N | 0.482985942 | None | None | N |
| V/N | 0.2553 | likely_benign | 0.2813 | benign | -0.627 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| V/P | 0.913 | likely_pathogenic | 0.9273 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/Q | 0.3344 | likely_benign | 0.3291 | benign | -0.796 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| V/R | 0.3874 | ambiguous | 0.3684 | ambiguous | -0.276 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/S | 0.2195 | likely_benign | 0.2367 | benign | -1.106 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/T | 0.1725 | likely_benign | 0.1778 | benign | -1.039 | Destabilizing | 0.998 | D | 0.76 | deleterious | None | None | None | None | N |
| V/W | 0.8882 | likely_pathogenic | 0.9097 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/Y | 0.6075 | likely_pathogenic | 0.6355 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.876 | 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.