Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26117 | 78574;78575;78576 | chr2:178567783;178567782;178567781 | chr2:179432510;179432509;179432508 |
| N2AB | 24476 | 73651;73652;73653 | chr2:178567783;178567782;178567781 | chr2:179432510;179432509;179432508 |
| N2A | 23549 | 70870;70871;70872 | chr2:178567783;178567782;178567781 | chr2:179432510;179432509;179432508 |
| N2B | 17052 | 51379;51380;51381 | chr2:178567783;178567782;178567781 | chr2:179432510;179432509;179432508 |
| Novex-1 | 17177 | 51754;51755;51756 | chr2:178567783;178567782;178567781 | chr2:179432510;179432509;179432508 |
| Novex-2 | 17244 | 51955;51956;51957 | chr2:178567783;178567782;178567781 | chr2:179432510;179432509;179432508 |
| 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 | rs1307239862  |
None | 1.0 | N | 0.639 | 0.527 | 0.390220360785 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs1307239862 |
None | 1.0 | N | 0.639 | 0.527 | 0.390220360785 | gnomAD-4.0.0 | 3.09911E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.29164E-04 | 2.54323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8614 | likely_pathogenic | 0.8798 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.494064488 | None | None | I |
| G/C | 0.9335 | likely_pathogenic | 0.9347 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/D | 0.9671 | likely_pathogenic | 0.9715 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/E | 0.9804 | likely_pathogenic | 0.9832 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.51580282 | None | None | I |
| G/F | 0.9863 | likely_pathogenic | 0.9881 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/H | 0.9827 | likely_pathogenic | 0.9858 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/I | 0.9798 | likely_pathogenic | 0.9815 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/K | 0.9842 | likely_pathogenic | 0.9859 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/L | 0.9787 | likely_pathogenic | 0.9815 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9871 | likely_pathogenic | 0.9886 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.9507 | likely_pathogenic | 0.9608 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9972 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Q | 0.9773 | likely_pathogenic | 0.9812 | pathogenic | -0.656 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/R | 0.9628 | likely_pathogenic | 0.9657 | pathogenic | -0.23 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.504281931 | None | None | I |
| G/S | 0.741 | likely_pathogenic | 0.7658 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| G/T | 0.9467 | likely_pathogenic | 0.956 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/V | 0.9683 | likely_pathogenic | 0.9716 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.550036321 | None | None | I |
| G/W | 0.9867 | likely_pathogenic | 0.987 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.9823 | likely_pathogenic | 0.9832 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
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.