Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30339 | 91240;91241;91242 | chr2:178551885;178551884;178551883 | chr2:179416612;179416611;179416610 |
| N2AB | 28698 | 86317;86318;86319 | chr2:178551885;178551884;178551883 | chr2:179416612;179416611;179416610 |
| N2A | 27771 | 83536;83537;83538 | chr2:178551885;178551884;178551883 | chr2:179416612;179416611;179416610 |
| N2B | 21274 | 64045;64046;64047 | chr2:178551885;178551884;178551883 | chr2:179416612;179416611;179416610 |
| Novex-1 | 21399 | 64420;64421;64422 | chr2:178551885;178551884;178551883 | chr2:179416612;179416611;179416610 |
| Novex-2 | 21466 | 64621;64622;64623 | chr2:178551885;178551884;178551883 | chr2:179416612;179416611;179416610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs966591183  |
-0.099 | 1.0 | N | 0.435 | 0.291 | 0.367803931526 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/E | rs966591183 |
-0.099 | 1.0 | N | 0.435 | 0.291 | 0.367803931526 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs966591183 |
-0.099 | 1.0 | N | 0.435 | 0.291 | 0.367803931526 | gnomAD-4.0.0 | 1.23931E-06 | None | None | None | None | I | None | 2.66866E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.558 | 0.386 | 0.292787519742 | gnomAD-4.0.0 | 6.84184E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73491E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4019 | ambiguous | 0.482 | ambiguous | -0.249 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.490424546 | None | None | I |
| D/C | 0.7989 | likely_pathogenic | 0.8479 | pathogenic | 0.421 | Stabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| D/E | 0.2807 | likely_benign | 0.3162 | benign | -0.312 | Destabilizing | 1.0 | D | 0.435 | neutral | N | 0.480059273 | None | None | I |
| D/F | 0.7969 | likely_pathogenic | 0.8588 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| D/G | 0.4169 | ambiguous | 0.4938 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.523060689 | None | None | I |
| D/H | 0.5723 | likely_pathogenic | 0.6476 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.516134717 | None | None | I |
| D/I | 0.704 | likely_pathogenic | 0.7846 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| D/K | 0.7305 | likely_pathogenic | 0.7931 | pathogenic | 0.497 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| D/L | 0.6629 | likely_pathogenic | 0.7325 | pathogenic | 0.069 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| D/M | 0.7913 | likely_pathogenic | 0.8442 | pathogenic | 0.519 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| D/N | 0.1494 | likely_benign | 0.1693 | benign | 0.378 | Stabilizing | 1.0 | D | 0.558 | neutral | N | 0.447541423 | None | None | I |
| D/P | 0.9685 | likely_pathogenic | 0.9824 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| D/Q | 0.5996 | likely_pathogenic | 0.6707 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| D/R | 0.7305 | likely_pathogenic | 0.7968 | pathogenic | 0.27 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| D/S | 0.209 | likely_benign | 0.245 | benign | 0.294 | Stabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| D/T | 0.3567 | ambiguous | 0.4164 | ambiguous | 0.406 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| D/V | 0.5096 | ambiguous | 0.601 | pathogenic | -0.017 | Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.505655191 | None | None | I |
| D/W | 0.9518 | likely_pathogenic | 0.9683 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| D/Y | 0.4728 | ambiguous | 0.5612 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.490424546 | 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.