Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24814 | 74665;74666;74667 | chr2:178571692;178571691;178571690 | chr2:179436419;179436418;179436417 |
| N2AB | 23173 | 69742;69743;69744 | chr2:178571692;178571691;178571690 | chr2:179436419;179436418;179436417 |
| N2A | 22246 | 66961;66962;66963 | chr2:178571692;178571691;178571690 | chr2:179436419;179436418;179436417 |
| N2B | 15749 | 47470;47471;47472 | chr2:178571692;178571691;178571690 | chr2:179436419;179436418;179436417 |
| Novex-1 | 15874 | 47845;47846;47847 | chr2:178571692;178571691;178571690 | chr2:179436419;179436418;179436417 |
| Novex-2 | 15941 | 48046;48047;48048 | chr2:178571692;178571691;178571690 | chr2:179436419;179436418;179436417 |
| 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/R | rs1227523189  |
None | 0.997 | N | 0.799 | 0.404 | 0.378322506985 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1227523189 |
None | 0.997 | N | 0.799 | 0.404 | 0.378322506985 | gnomAD-4.0.0 | 6.57808E-06 | None | None | None | None | N | None | 2.41511E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4143 | ambiguous | 0.4235 | ambiguous | -0.305 | Destabilizing | 0.991 | D | 0.623 | neutral | N | 0.491150554 | None | None | N |
| G/C | 0.7315 | likely_pathogenic | 0.718 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/D | 0.8238 | likely_pathogenic | 0.8407 | pathogenic | -0.532 | Destabilizing | 0.996 | D | 0.765 | deleterious | None | None | None | None | N |
| G/E | 0.8192 | likely_pathogenic | 0.8288 | pathogenic | -0.685 | Destabilizing | 0.997 | D | 0.777 | deleterious | N | 0.469303372 | None | None | N |
| G/F | 0.9186 | likely_pathogenic | 0.9097 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| G/H | 0.942 | likely_pathogenic | 0.9409 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| G/I | 0.8706 | likely_pathogenic | 0.8578 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/K | 0.9396 | likely_pathogenic | 0.9373 | pathogenic | -0.846 | Destabilizing | 0.998 | D | 0.785 | deleterious | None | None | None | None | N |
| G/L | 0.8683 | likely_pathogenic | 0.8644 | pathogenic | -0.446 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| G/M | 0.929 | likely_pathogenic | 0.9243 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/N | 0.8634 | likely_pathogenic | 0.8664 | pathogenic | -0.537 | Destabilizing | 0.521 | D | 0.53 | neutral | None | None | None | None | N |
| G/P | 0.8762 | likely_pathogenic | 0.8656 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Q | 0.9025 | likely_pathogenic | 0.902 | pathogenic | -0.793 | Destabilizing | 0.999 | D | 0.789 | deleterious | None | None | None | None | N |
| G/R | 0.9 | likely_pathogenic | 0.8978 | pathogenic | -0.404 | Destabilizing | 0.997 | D | 0.799 | deleterious | N | 0.47229234 | None | None | N |
| G/S | 0.3838 | ambiguous | 0.3948 | ambiguous | -0.693 | Destabilizing | 0.996 | D | 0.673 | neutral | None | None | None | None | N |
| G/T | 0.7623 | likely_pathogenic | 0.7541 | pathogenic | -0.772 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| G/V | 0.8088 | likely_pathogenic | 0.7982 | pathogenic | -0.367 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.495956456 | None | None | N |
| G/W | 0.8959 | likely_pathogenic | 0.8839 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| G/Y | 0.898 | likely_pathogenic | 0.8857 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.772 | 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.