Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24730 | 74413;74414;74415 | chr2:178571944;178571943;178571942 | chr2:179436671;179436670;179436669 |
| N2AB | 23089 | 69490;69491;69492 | chr2:178571944;178571943;178571942 | chr2:179436671;179436670;179436669 |
| N2A | 22162 | 66709;66710;66711 | chr2:178571944;178571943;178571942 | chr2:179436671;179436670;179436669 |
| N2B | 15665 | 47218;47219;47220 | chr2:178571944;178571943;178571942 | chr2:179436671;179436670;179436669 |
| Novex-1 | 15790 | 47593;47594;47595 | chr2:178571944;178571943;178571942 | chr2:179436671;179436670;179436669 |
| Novex-2 | 15857 | 47794;47795;47796 | chr2:178571944;178571943;178571942 | chr2:179436671;179436670;179436669 |
| 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 | rs781046518  |
-0.42 | 1.0 | D | 0.867 | 0.627 | 0.673759014288 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs781046518 |
-0.42 | 1.0 | D | 0.867 | 0.627 | 0.673759014288 | gnomAD-4.0.0 | 6.81912E-06 | None | None | None | None | I | None | 2.6713E-05 | 6.672E-05 | None | 0 | 2.23614E-05 | None | 0 | 0 | 1.69555E-06 | 0 | 3.20379E-05 |
| G/V | None | None | 1.0 | D | 0.845 | 0.714 | 0.950035276279 | gnomAD-4.0.0 | 6.84434E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99628E-07 | 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 | 0.5237 | ambiguous | 0.5463 | ambiguous | -0.312 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.623361638 | None | None | I |
| G/C | 0.5921 | likely_pathogenic | 0.6133 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.656005772 | None | None | I |
| G/D | 0.534 | ambiguous | 0.6089 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.596209092 | None | None | I |
| G/E | 0.5964 | likely_pathogenic | 0.6531 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/F | 0.9471 | likely_pathogenic | 0.9519 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/H | 0.686 | likely_pathogenic | 0.7291 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/I | 0.9485 | likely_pathogenic | 0.956 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/K | 0.6211 | likely_pathogenic | 0.666 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/L | 0.8907 | likely_pathogenic | 0.8924 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/M | 0.8935 | likely_pathogenic | 0.898 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/N | 0.5094 | ambiguous | 0.5389 | ambiguous | -0.415 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/P | 0.9919 | likely_pathogenic | 0.9933 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/Q | 0.5847 | likely_pathogenic | 0.6174 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/R | 0.4986 | ambiguous | 0.543 | ambiguous | -0.283 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.623563442 | None | None | I |
| G/S | 0.2515 | likely_benign | 0.273 | benign | -0.517 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.629660444 | None | None | I |
| G/T | 0.6124 | likely_pathogenic | 0.641 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/V | 0.8775 | likely_pathogenic | 0.8918 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.655803968 | None | None | I |
| G/W | 0.8445 | likely_pathogenic | 0.8668 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/Y | 0.8742 | likely_pathogenic | 0.8908 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
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.