Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28344 | 85255;85256;85257 | chr2:178561102;178561101;178561100 | chr2:179425829;179425828;179425827 |
| N2AB | 26703 | 80332;80333;80334 | chr2:178561102;178561101;178561100 | chr2:179425829;179425828;179425827 |
| N2A | 25776 | 77551;77552;77553 | chr2:178561102;178561101;178561100 | chr2:179425829;179425828;179425827 |
| N2B | 19279 | 58060;58061;58062 | chr2:178561102;178561101;178561100 | chr2:179425829;179425828;179425827 |
| Novex-1 | 19404 | 58435;58436;58437 | chr2:178561102;178561101;178561100 | chr2:179425829;179425828;179425827 |
| Novex-2 | 19471 | 58636;58637;58638 | chr2:178561102;178561101;178561100 | chr2:179425829;179425828;179425827 |
| 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 | rs757065143  |
-0.146 | 0.995 | N | 0.835 | 0.318 | 0.643776053401 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/R | rs757065143 |
-0.146 | 0.995 | N | 0.835 | 0.318 | 0.643776053401 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs757065143 |
-0.146 | 0.995 | N | 0.835 | 0.318 | 0.643776053401 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47011E-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 | 0.4511 | ambiguous | 0.44 | ambiguous | -0.43 | Destabilizing | 0.981 | D | 0.693 | prob.delet. | D | 0.524663773 | None | None | N |
| G/C | 0.6374 | likely_pathogenic | 0.6662 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/D | 0.7352 | likely_pathogenic | 0.7247 | pathogenic | -0.587 | Destabilizing | 0.992 | D | 0.731 | deleterious | None | None | None | None | N |
| G/E | 0.6819 | likely_pathogenic | 0.6723 | pathogenic | -0.704 | Destabilizing | 0.465 | N | 0.649 | prob.neutral | N | 0.440719812 | None | None | N |
| G/F | 0.8977 | likely_pathogenic | 0.9025 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/H | 0.8789 | likely_pathogenic | 0.8791 | pathogenic | -0.745 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| G/I | 0.7924 | likely_pathogenic | 0.8002 | pathogenic | -0.322 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.8201 | likely_pathogenic | 0.82 | pathogenic | -0.988 | Destabilizing | 0.992 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.8118 | likely_pathogenic | 0.7957 | pathogenic | -0.322 | Destabilizing | 0.996 | D | 0.829 | deleterious | None | None | None | None | N |
| G/M | 0.8713 | likely_pathogenic | 0.8664 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/N | 0.7889 | likely_pathogenic | 0.7729 | pathogenic | -0.671 | Destabilizing | 0.996 | D | 0.763 | deleterious | None | None | None | None | N |
| G/P | 0.9344 | likely_pathogenic | 0.9236 | pathogenic | -0.319 | Destabilizing | 0.998 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Q | 0.7671 | likely_pathogenic | 0.76 | pathogenic | -0.902 | Destabilizing | 0.992 | D | 0.836 | deleterious | None | None | None | None | N |
| G/R | 0.7552 | likely_pathogenic | 0.764 | pathogenic | -0.574 | Destabilizing | 0.995 | D | 0.835 | deleterious | N | 0.483002849 | None | None | N |
| G/S | 0.3456 | ambiguous | 0.3324 | benign | -0.905 | Destabilizing | 0.996 | D | 0.744 | deleterious | None | None | None | None | N |
| G/T | 0.6368 | likely_pathogenic | 0.6251 | pathogenic | -0.938 | Destabilizing | 0.996 | D | 0.836 | deleterious | None | None | None | None | N |
| G/V | 0.6997 | likely_pathogenic | 0.7034 | pathogenic | -0.319 | Destabilizing | 0.997 | D | 0.832 | deleterious | N | 0.521836899 | None | None | N |
| G/W | 0.8557 | likely_pathogenic | 0.8586 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.520732296 | None | None | N |
| G/Y | 0.8588 | likely_pathogenic | 0.8615 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.837 | 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.