Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32740 | 98443;98444;98445 | chr2:178539847;178539846;178539845 | chr2:179404574;179404573;179404572 |
| N2AB | 31099 | 93520;93521;93522 | chr2:178539847;178539846;178539845 | chr2:179404574;179404573;179404572 |
| N2A | 30172 | 90739;90740;90741 | chr2:178539847;178539846;178539845 | chr2:179404574;179404573;179404572 |
| N2B | 23675 | 71248;71249;71250 | chr2:178539847;178539846;178539845 | chr2:179404574;179404573;179404572 |
| Novex-1 | 23800 | 71623;71624;71625 | chr2:178539847;178539846;178539845 | chr2:179404574;179404573;179404572 |
| Novex-2 | 23867 | 71824;71825;71826 | chr2:178539847;178539846;178539845 | chr2:179404574;179404573;179404572 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs376999335  |
-0.499 | 0.999 | N | 0.587 | 0.332 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| K/R | rs376999335 |
-0.499 | 0.999 | N | 0.587 | 0.332 | None | 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 |
| K/R | rs376999335 |
-0.499 | 0.999 | N | 0.587 | 0.332 | None | gnomAD-4.0.0 | 3.71805E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23806E-06 | 0 | 1.60102E-05 |
| K/T | rs376999335 |
None | 1.0 | N | 0.746 | 0.649 | 0.466907325337 | 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 |
| K/T | rs376999335 |
None | 1.0 | N | 0.746 | 0.649 | 0.466907325337 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9405 | likely_pathogenic | 0.9456 | pathogenic | -0.824 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| K/C | 0.9206 | likely_pathogenic | 0.9182 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| K/D | 0.992 | likely_pathogenic | 0.9912 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| K/E | 0.8812 | likely_pathogenic | 0.8725 | pathogenic | -1.163 | Destabilizing | 0.999 | D | 0.563 | neutral | N | 0.511181238 | None | None | N |
| K/F | 0.9583 | likely_pathogenic | 0.9619 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| K/G | 0.9702 | likely_pathogenic | 0.9711 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/H | 0.6781 | likely_pathogenic | 0.6824 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/I | 0.8879 | likely_pathogenic | 0.8894 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| K/L | 0.8571 | likely_pathogenic | 0.8427 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| K/M | 0.7341 | likely_pathogenic | 0.7082 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | N | 0.499406859 | None | None | N |
| K/N | 0.968 | likely_pathogenic | 0.9657 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.499406859 | None | None | N |
| K/P | 0.9955 | likely_pathogenic | 0.9963 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| K/Q | 0.5677 | likely_pathogenic | 0.539 | ambiguous | -1.282 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.49889988 | None | None | N |
| K/R | 0.0968 | likely_benign | 0.098 | benign | -0.818 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.478781476 | None | None | N |
| K/S | 0.968 | likely_pathogenic | 0.9682 | pathogenic | -1.743 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| K/T | 0.9231 | likely_pathogenic | 0.9209 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.510674259 | None | None | N |
| K/V | 0.837 | likely_pathogenic | 0.8377 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/W | 0.9409 | likely_pathogenic | 0.9476 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/Y | 0.8947 | likely_pathogenic | 0.8961 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.768 | 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.