Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23107 | 69544;69545;69546 | chr2:178577016;178577015;178577014 | chr2:179441743;179441742;179441741 |
| N2AB | 21466 | 64621;64622;64623 | chr2:178577016;178577015;178577014 | chr2:179441743;179441742;179441741 |
| N2A | 20539 | 61840;61841;61842 | chr2:178577016;178577015;178577014 | chr2:179441743;179441742;179441741 |
| N2B | 14042 | 42349;42350;42351 | chr2:178577016;178577015;178577014 | chr2:179441743;179441742;179441741 |
| Novex-1 | 14167 | 42724;42725;42726 | chr2:178577016;178577015;178577014 | chr2:179441743;179441742;179441741 |
| Novex-2 | 14234 | 42925;42926;42927 | chr2:178577016;178577015;178577014 | chr2:179441743;179441742;179441741 |
| 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 | rs2046587390  |
None | 1.0 | N | 0.735 | 0.543 | 0.432379865206 | gnomAD-4.0.0 | 4.77561E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.53652E-05 | 0 | None | 0 | 0 | 2.85966E-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 | 0.7545 | likely_pathogenic | 0.7302 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.50485286 | None | None | N |
| G/C | 0.7741 | likely_pathogenic | 0.7827 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/D | 0.5299 | ambiguous | 0.5138 | ambiguous | -1.25 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/E | 0.769 | likely_pathogenic | 0.776 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.86 | deleterious | N | 0.503700771 | None | None | N |
| G/F | 0.9664 | likely_pathogenic | 0.9615 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/H | 0.8603 | likely_pathogenic | 0.8469 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/I | 0.9745 | likely_pathogenic | 0.977 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.9235 | likely_pathogenic | 0.9329 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/L | 0.963 | likely_pathogenic | 0.9584 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.9564 | likely_pathogenic | 0.9516 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/N | 0.4523 | ambiguous | 0.4238 | ambiguous | -0.911 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/P | 0.9965 | likely_pathogenic | 0.9975 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/Q | 0.8411 | likely_pathogenic | 0.8386 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/R | 0.8865 | likely_pathogenic | 0.8977 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.539846828 | None | None | N |
| G/S | 0.401 | ambiguous | 0.3564 | ambiguous | -1.044 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/T | 0.8089 | likely_pathogenic | 0.8015 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.9479 | likely_pathogenic | 0.9501 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.558711552 | None | None | N |
| G/W | 0.908 | likely_pathogenic | 0.9063 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/Y | 0.9009 | likely_pathogenic | 0.8932 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.806 | 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.