Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1740 | 5443;5444;5445 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
| N2AB | 1740 | 5443;5444;5445 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
| N2A | 1740 | 5443;5444;5445 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
| N2B | 1694 | 5305;5306;5307 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
| Novex-1 | 1694 | 5305;5306;5307 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
| Novex-2 | 1694 | 5305;5306;5307 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
| Novex-3 | 1740 | 5443;5444;5445 | chr2:178776646;178776645;178776644 | chr2:179641373;179641372;179641371 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs773048437  |
-1.086 | 1.0 | N | 0.701 | 0.517 | 0.304760801415 | gnomAD-2.1.1 | 1.6E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 8.83E-06 | 0 |
| H/R | rs773048437 |
-1.086 | 1.0 | N | 0.701 | 0.517 | 0.304760801415 | gnomAD-4.0.0 | 1.23141E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7986E-06 | 1.73897E-04 | 1.65612E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8326 | likely_pathogenic | 0.8026 | pathogenic | -1.191 | Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| H/C | 0.6325 | likely_pathogenic | 0.5806 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| H/D | 0.9211 | likely_pathogenic | 0.9142 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.684116281 | None | None | N |
| H/E | 0.873 | likely_pathogenic | 0.8519 | pathogenic | -0.511 | Destabilizing | 0.999 | D | 0.578 | neutral | None | None | None | None | N |
| H/F | 0.7121 | likely_pathogenic | 0.6882 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| H/G | 0.9371 | likely_pathogenic | 0.9248 | pathogenic | -1.551 | Destabilizing | 0.999 | D | 0.693 | prob.neutral | None | None | None | None | N |
| H/I | 0.7619 | likely_pathogenic | 0.6983 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| H/K | 0.7381 | likely_pathogenic | 0.7112 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| H/L | 0.3331 | likely_benign | 0.2761 | benign | -0.188 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.509639761 | None | None | N |
| H/M | 0.8185 | likely_pathogenic | 0.7838 | pathogenic | -0.35 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| H/N | 0.5408 | ambiguous | 0.4945 | ambiguous | -0.993 | Destabilizing | 0.999 | D | 0.593 | neutral | D | 0.563956513 | None | None | N |
| H/P | 0.9712 | likely_pathogenic | 0.9636 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.571700277 | None | None | N |
| H/Q | 0.5419 | ambiguous | 0.5034 | ambiguous | -0.765 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.604889082 | None | None | N |
| H/R | 0.4942 | ambiguous | 0.4543 | ambiguous | -1.21 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.445836666 | None | None | N |
| H/S | 0.7896 | likely_pathogenic | 0.7591 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| H/T | 0.8791 | likely_pathogenic | 0.8442 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| H/V | 0.7158 | likely_pathogenic | 0.653 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| H/W | 0.762 | likely_pathogenic | 0.7401 | pathogenic | 0.145 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| H/Y | 0.3564 | ambiguous | 0.324 | benign | 0.305 | Stabilizing | 0.999 | D | 0.641 | neutral | D | 0.591610974 | 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.