Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24976 | 75151;75152;75153 | chr2:178571206;178571205;178571204 | chr2:179435933;179435932;179435931 |
| N2AB | 23335 | 70228;70229;70230 | chr2:178571206;178571205;178571204 | chr2:179435933;179435932;179435931 |
| N2A | 22408 | 67447;67448;67449 | chr2:178571206;178571205;178571204 | chr2:179435933;179435932;179435931 |
| N2B | 15911 | 47956;47957;47958 | chr2:178571206;178571205;178571204 | chr2:179435933;179435932;179435931 |
| Novex-1 | 16036 | 48331;48332;48333 | chr2:178571206;178571205;178571204 | chr2:179435933;179435932;179435931 |
| Novex-2 | 16103 | 48532;48533;48534 | chr2:178571206;178571205;178571204 | chr2:179435933;179435932;179435931 |
| 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/D | rs1708064976  |
None | 1.0 | N | 0.799 | 0.533 | 0.47737504017 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1708064976 |
None | 1.0 | N | 0.799 | 0.533 | 0.47737504017 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | N | None | 0 | 6.55222E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1419152054 |
-1.117 | 1.0 | N | 0.805 | 0.506 | 0.397691132334 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1419152054 |
-1.117 | 1.0 | N | 0.805 | 0.506 | 0.397691132334 | gnomAD-4.0.0 | 3.18364E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 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 | 0.4182 | ambiguous | 0.4388 | ambiguous | -0.627 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.491850713 | None | None | N |
| G/C | 0.5874 | likely_pathogenic | 0.5855 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.552964334 | None | None | N |
| G/D | 0.4874 | ambiguous | 0.516 | ambiguous | -1.06 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.487215904 | None | None | N |
| G/E | 0.677 | likely_pathogenic | 0.7025 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/F | 0.8839 | likely_pathogenic | 0.8988 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.8139 | likely_pathogenic | 0.8272 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/I | 0.8744 | likely_pathogenic | 0.8867 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.9044 | likely_pathogenic | 0.9158 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/L | 0.8479 | likely_pathogenic | 0.862 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/M | 0.8228 | likely_pathogenic | 0.834 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.4237 | ambiguous | 0.4505 | ambiguous | -0.896 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/P | 0.9902 | likely_pathogenic | 0.9894 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/Q | 0.8092 | likely_pathogenic | 0.8241 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.8463 | likely_pathogenic | 0.8639 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.522071742 | None | None | N |
| G/S | 0.2616 | likely_benign | 0.2694 | benign | -1.059 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.490013834 | None | None | N |
| G/T | 0.5523 | ambiguous | 0.5718 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/V | 0.7757 | likely_pathogenic | 0.7976 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.5343531 | None | None | N |
| G/W | 0.8018 | likely_pathogenic | 0.8218 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Y | 0.7816 | likely_pathogenic | 0.7972 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.815 | 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.