Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14276 | 43051;43052;43053 | chr2:178633533;178633532;178633531 | chr2:179498260;179498259;179498258 |
| N2AB | 12635 | 38128;38129;38130 | chr2:178633533;178633532;178633531 | chr2:179498260;179498259;179498258 |
| N2A | 11708 | 35347;35348;35349 | chr2:178633533;178633532;178633531 | chr2:179498260;179498259;179498258 |
| N2B | 5211 | 15856;15857;15858 | chr2:178633533;178633532;178633531 | chr2:179498260;179498259;179498258 |
| Novex-1 | 5336 | 16231;16232;16233 | chr2:178633533;178633532;178633531 | chr2:179498260;179498259;179498258 |
| Novex-2 | 5403 | 16432;16433;16434 | chr2:178633533;178633532;178633531 | chr2:179498260;179498259;179498258 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | None | None | 0.061 | N | 0.143 | 0.103 | 0.166414681773 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| S/F | rs2060063750  |
None | 0.996 | N | 0.587 | 0.385 | 0.737229180969 | gnomAD-4.0.0 | 1.59218E-06 | None | None | None | None | N | None | 0 | 2.2877E-05 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.086 | likely_benign | 0.0785 | benign | -0.814 | Destabilizing | 0.061 | N | 0.143 | neutral | N | 0.506863568 | None | None | N |
| S/C | 0.1727 | likely_benign | 0.1566 | benign | -0.693 | Destabilizing | 0.999 | D | 0.499 | neutral | D | 0.600567696 | None | None | N |
| S/D | 0.3845 | ambiguous | 0.3835 | ambiguous | -0.739 | Destabilizing | 0.969 | D | 0.416 | neutral | None | None | None | None | N |
| S/E | 0.4237 | ambiguous | 0.4567 | ambiguous | -0.647 | Destabilizing | 0.969 | D | 0.393 | neutral | None | None | None | None | N |
| S/F | 0.1998 | likely_benign | 0.1682 | benign | -0.738 | Destabilizing | 0.996 | D | 0.587 | neutral | N | 0.506027544 | None | None | N |
| S/G | 0.1245 | likely_benign | 0.1196 | benign | -1.148 | Destabilizing | 0.759 | D | 0.412 | neutral | None | None | None | None | N |
| S/H | 0.2924 | likely_benign | 0.3365 | benign | -1.545 | Destabilizing | 0.999 | D | 0.501 | neutral | None | None | None | None | N |
| S/I | 0.1353 | likely_benign | 0.1311 | benign | -0.005 | Destabilizing | 0.982 | D | 0.542 | neutral | None | None | None | None | N |
| S/K | 0.6388 | likely_pathogenic | 0.642 | pathogenic | -0.623 | Destabilizing | 0.939 | D | 0.39 | neutral | None | None | None | None | N |
| S/L | 0.1146 | likely_benign | 0.1009 | benign | -0.005 | Destabilizing | 0.939 | D | 0.517 | neutral | None | None | None | None | N |
| S/M | 0.1881 | likely_benign | 0.2003 | benign | 0.078 | Stabilizing | 0.997 | D | 0.505 | neutral | None | None | None | None | N |
| S/N | 0.1522 | likely_benign | 0.1414 | benign | -0.903 | Destabilizing | 0.969 | D | 0.455 | neutral | None | None | None | None | N |
| S/P | 0.8937 | likely_pathogenic | 0.7761 | pathogenic | -0.239 | Destabilizing | 0.988 | D | 0.479 | neutral | D | 0.662032337 | None | None | N |
| S/Q | 0.4042 | ambiguous | 0.4615 | ambiguous | -0.889 | Destabilizing | 0.997 | D | 0.448 | neutral | None | None | None | None | N |
| S/R | 0.6096 | likely_pathogenic | 0.5819 | pathogenic | -0.731 | Destabilizing | 0.991 | D | 0.482 | neutral | None | None | None | None | N |
| S/T | 0.0721 | likely_benign | 0.0726 | benign | -0.78 | Destabilizing | 0.134 | N | 0.165 | neutral | N | 0.486499235 | None | None | N |
| S/V | 0.1416 | likely_benign | 0.1411 | benign | -0.239 | Destabilizing | 0.939 | D | 0.525 | neutral | None | None | None | None | N |
| S/W | 0.4163 | ambiguous | 0.4179 | ambiguous | -0.794 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| S/Y | 0.1919 | likely_benign | 0.1832 | benign | -0.463 | Destabilizing | 0.996 | D | 0.586 | neutral | D | 0.558139235 | 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.