Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22698 | 68317;68318;68319 | chr2:178578938;178578937;178578936 | chr2:179443665;179443664;179443663 |
| N2AB | 21057 | 63394;63395;63396 | chr2:178578938;178578937;178578936 | chr2:179443665;179443664;179443663 |
| N2A | 20130 | 60613;60614;60615 | chr2:178578938;178578937;178578936 | chr2:179443665;179443664;179443663 |
| N2B | 13633 | 41122;41123;41124 | chr2:178578938;178578937;178578936 | chr2:179443665;179443664;179443663 |
| Novex-1 | 13758 | 41497;41498;41499 | chr2:178578938;178578937;178578936 | chr2:179443665;179443664;179443663 |
| Novex-2 | 13825 | 41698;41699;41700 | chr2:178578938;178578937;178578936 | chr2:179443665;179443664;179443663 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | rs1022194199  |
-1.001 | 0.994 | N | 0.761 | 0.328 | 0.628652243003 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65673E-04 |
| V/F | rs1022194199 |
-1.001 | 0.994 | N | 0.761 | 0.328 | 0.628652243003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs1022194199 |
-1.001 | 0.994 | N | 0.761 | 0.328 | 0.628652243003 | gnomAD-4.0.0 | 2.56394E-06 | None | None | None | None | N | None | 0 | 1.69589E-05 | None | 0 | 0 | None | 0 | 0 | 2.3946E-06 | 0 | 0 |
| V/I | rs1022194199 |
None | 0.122 | N | 0.213 | 0.117 | 0.388812400583 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1022194199 |
None | 0.122 | N | 0.213 | 0.117 | 0.388812400583 | gnomAD-4.0.0 | 6.57774E-06 | None | None | None | None | N | None | 0 | 6.55738E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6277 | likely_pathogenic | 0.5934 | pathogenic | -1.592 | Destabilizing | 0.91 | D | 0.635 | neutral | N | 0.488617255 | None | None | N |
| V/C | 0.8995 | likely_pathogenic | 0.891 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| V/D | 0.9815 | likely_pathogenic | 0.976 | pathogenic | -2.028 | Highly Destabilizing | 0.994 | D | 0.783 | deleterious | N | 0.502759988 | None | None | N |
| V/E | 0.9494 | likely_pathogenic | 0.9332 | pathogenic | -1.763 | Destabilizing | 0.996 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/F | 0.7301 | likely_pathogenic | 0.6805 | pathogenic | -0.854 | Destabilizing | 0.994 | D | 0.761 | deleterious | N | 0.516998722 | None | None | N |
| V/G | 0.8021 | likely_pathogenic | 0.7868 | pathogenic | -2.173 | Highly Destabilizing | 0.994 | D | 0.761 | deleterious | N | 0.50750966 | None | None | N |
| V/H | 0.9854 | likely_pathogenic | 0.9809 | pathogenic | -2.107 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/I | 0.0943 | likely_benign | 0.0875 | benign | 0.039 | Stabilizing | 0.122 | N | 0.213 | neutral | N | 0.426955507 | None | None | N |
| V/K | 0.9708 | likely_pathogenic | 0.9616 | pathogenic | -1.125 | Destabilizing | 0.996 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/L | 0.4899 | ambiguous | 0.4392 | ambiguous | 0.039 | Stabilizing | 0.835 | D | 0.457 | neutral | N | 0.478979051 | None | None | N |
| V/M | 0.4744 | ambiguous | 0.4101 | ambiguous | -0.168 | Destabilizing | 0.996 | D | 0.692 | prob.neutral | None | None | None | None | N |
| V/N | 0.9104 | likely_pathogenic | 0.8892 | pathogenic | -1.551 | Destabilizing | 0.996 | D | 0.791 | deleterious | None | None | None | None | N |
| V/P | 0.9395 | likely_pathogenic | 0.9365 | pathogenic | -0.477 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| V/Q | 0.9325 | likely_pathogenic | 0.9178 | pathogenic | -1.277 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| V/R | 0.9546 | likely_pathogenic | 0.9476 | pathogenic | -1.26 | Destabilizing | 0.996 | D | 0.803 | deleterious | None | None | None | None | N |
| V/S | 0.7738 | likely_pathogenic | 0.7434 | pathogenic | -2.191 | Highly Destabilizing | 0.942 | D | 0.745 | deleterious | None | None | None | None | N |
| V/T | 0.6741 | likely_pathogenic | 0.6202 | pathogenic | -1.76 | Destabilizing | 0.304 | N | 0.452 | neutral | None | None | None | None | N |
| V/W | 0.9937 | likely_pathogenic | 0.9918 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| V/Y | 0.9736 | likely_pathogenic | 0.9675 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.759 | 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.