Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32629 | 98110;98111;98112 | chr2:178540281;178540280;178540279 | chr2:179405008;179405007;179405006 |
| N2AB | 30988 | 93187;93188;93189 | chr2:178540281;178540280;178540279 | chr2:179405008;179405007;179405006 |
| N2A | 30061 | 90406;90407;90408 | chr2:178540281;178540280;178540279 | chr2:179405008;179405007;179405006 |
| N2B | 23564 | 70915;70916;70917 | chr2:178540281;178540280;178540279 | chr2:179405008;179405007;179405006 |
| Novex-1 | 23689 | 71290;71291;71292 | chr2:178540281;178540280;178540279 | chr2:179405008;179405007;179405006 |
| Novex-2 | 23756 | 71491;71492;71493 | chr2:178540281;178540280;178540279 | chr2:179405008;179405007;179405006 |
| 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 | None | None | 1.0 | N | 0.615 | 0.442 | 0.396794106654 | gnomAD-4.0.0 | 4.78942E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29632E-06 | 0 | 0 |
| G/R | rs767456906  |
-0.168 | 1.0 | N | 0.815 | 0.525 | 0.710692820268 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | rs767456906 |
-0.168 | 1.0 | N | 0.815 | 0.525 | 0.710692820268 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs767456906 |
-0.168 | 1.0 | N | 0.815 | 0.525 | 0.710692820268 | gnomAD-4.0.0 | 1.05348E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44096E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.447 | ambiguous | 0.4997 | ambiguous | -0.251 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.495070398 | None | None | I |
| G/C | 0.5197 | ambiguous | 0.573 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/D | 0.5384 | ambiguous | 0.6128 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/E | 0.648 | likely_pathogenic | 0.7279 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.526772684 | None | None | I |
| G/F | 0.8593 | likely_pathogenic | 0.8841 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.7294 | likely_pathogenic | 0.7819 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/I | 0.7752 | likely_pathogenic | 0.8345 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.7012 | likely_pathogenic | 0.7731 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/L | 0.8044 | likely_pathogenic | 0.837 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/M | 0.8421 | likely_pathogenic | 0.8763 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.5546 | ambiguous | 0.6079 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/P | 0.9736 | likely_pathogenic | 0.9806 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Q | 0.6547 | likely_pathogenic | 0.7124 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/R | 0.5662 | likely_pathogenic | 0.6462 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.511555265 | None | None | I |
| G/S | 0.2789 | likely_benign | 0.3241 | benign | -0.463 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/T | 0.5946 | likely_pathogenic | 0.658 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/V | 0.709 | likely_pathogenic | 0.7757 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.54810617 | None | None | I |
| G/W | 0.8028 | likely_pathogenic | 0.8432 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Y | 0.7785 | likely_pathogenic | 0.8206 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | 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.