Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25930 | 78013;78014;78015 | chr2:178568344;178568343;178568342 | chr2:179433071;179433070;179433069 |
| N2AB | 24289 | 73090;73091;73092 | chr2:178568344;178568343;178568342 | chr2:179433071;179433070;179433069 |
| N2A | 23362 | 70309;70310;70311 | chr2:178568344;178568343;178568342 | chr2:179433071;179433070;179433069 |
| N2B | 16865 | 50818;50819;50820 | chr2:178568344;178568343;178568342 | chr2:179433071;179433070;179433069 |
| Novex-1 | 16990 | 51193;51194;51195 | chr2:178568344;178568343;178568342 | chr2:179433071;179433070;179433069 |
| Novex-2 | 17057 | 51394;51395;51396 | chr2:178568344;178568343;178568342 | chr2:179433071;179433070;179433069 |
| 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/E | rs1706751422  |
None | 0.999 | N | 0.737 | 0.465 | 0.428516003163 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/E | rs1706751422 |
None | 0.999 | N | 0.737 | 0.465 | 0.428516003163 | gnomAD-4.0.0 | 3.045E-06 | None | None | None | None | N | None | 1.74746E-05 | 6.15991E-05 | None | 0 | 0 | None | 0 | 0 | 1.20496E-06 | 0 | 0 |
| K/T | rs397517711 |
None | 1.0 | N | 0.825 | 0.473 | 0.432154444652 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9538 | likely_pathogenic | 0.9669 | pathogenic | -1.406 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| K/C | 0.8741 | likely_pathogenic | 0.8857 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/D | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| K/E | 0.9045 | likely_pathogenic | 0.9369 | pathogenic | -1.663 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | N | 0.515161391 | None | None | N |
| K/F | 0.9747 | likely_pathogenic | 0.9801 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| K/G | 0.9749 | likely_pathogenic | 0.9831 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/H | 0.7685 | likely_pathogenic | 0.8046 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/I | 0.8739 | likely_pathogenic | 0.8977 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.869 | deleterious | N | 0.480381232 | None | None | N |
| K/L | 0.8369 | likely_pathogenic | 0.8551 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/M | 0.5925 | likely_pathogenic | 0.6255 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| K/N | 0.982 | likely_pathogenic | 0.9883 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.521744757 | None | None | N |
| K/P | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| K/Q | 0.4134 | ambiguous | 0.4739 | ambiguous | -1.493 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.478459129 | None | None | N |
| K/R | 0.1324 | likely_benign | 0.1438 | benign | -0.777 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.503530779 | None | None | N |
| K/S | 0.9674 | likely_pathogenic | 0.9778 | pathogenic | -2.44 | Highly Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| K/T | 0.9004 | likely_pathogenic | 0.9155 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.502537638 | None | None | N |
| K/V | 0.8476 | likely_pathogenic | 0.8604 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| K/W | 0.9595 | likely_pathogenic | 0.9677 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/Y | 0.9142 | likely_pathogenic | 0.9314 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.848 | 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.