Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35340 | 106243;106244;106245 | chr2:178530597;178530596;178530595 | chr2:179395324;179395323;179395322 |
| N2AB | 33699 | 101320;101321;101322 | chr2:178530597;178530596;178530595 | chr2:179395324;179395323;179395322 |
| N2A | 32772 | 98539;98540;98541 | chr2:178530597;178530596;178530595 | chr2:179395324;179395323;179395322 |
| N2B | 26275 | 79048;79049;79050 | chr2:178530597;178530596;178530595 | chr2:179395324;179395323;179395322 |
| Novex-1 | 26400 | 79423;79424;79425 | chr2:178530597;178530596;178530595 | chr2:179395324;179395323;179395322 |
| Novex-2 | 26467 | 79624;79625;79626 | chr2:178530597;178530596;178530595 | chr2:179395324;179395323;179395322 |
| 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/A | rs1688680351  |
None | 0.992 | N | 0.64 | 0.3 | 0.194818534648 | 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/A | rs1688680351 |
None | 0.992 | N | 0.64 | 0.3 | 0.194818534648 | gnomAD-4.0.0 | 1.23925E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69506E-06 | 0 | 0 |
| G/D | None | None | 0.467 | N | 0.502 | 0.326 | 0.170165803431 | gnomAD-4.0.0 | 1.36827E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79879E-06 | 0 | 0 |
| G/S | rs373610666 |
-0.836 | 0.998 | N | 0.778 | 0.303 | 0.199424873507 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/S | rs373610666 |
-0.836 | 0.998 | N | 0.778 | 0.303 | 0.199424873507 | gnomAD-4.0.0 | 2.0524E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.46741E-04 | 8.99391E-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 | 0.503 | ambiguous | 0.5236 | ambiguous | -0.577 | Destabilizing | 0.992 | D | 0.64 | neutral | N | 0.469500274 | None | None | N |
| G/C | 0.6422 | likely_pathogenic | 0.648 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.493644916 | None | None | N |
| G/D | 0.5859 | likely_pathogenic | 0.5422 | ambiguous | -0.463 | Destabilizing | 0.467 | N | 0.502 | neutral | N | 0.452939728 | None | None | N |
| G/E | 0.6621 | likely_pathogenic | 0.6241 | pathogenic | -0.549 | Destabilizing | 0.996 | D | 0.785 | deleterious | None | None | None | None | N |
| G/F | 0.9568 | likely_pathogenic | 0.9502 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/H | 0.8228 | likely_pathogenic | 0.7952 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.9304 | likely_pathogenic | 0.9295 | pathogenic | -0.363 | Destabilizing | 0.996 | D | 0.82 | deleterious | None | None | None | None | N |
| G/K | 0.8197 | likely_pathogenic | 0.7751 | pathogenic | -0.812 | Destabilizing | 0.998 | D | 0.826 | deleterious | None | None | None | None | N |
| G/L | 0.9283 | likely_pathogenic | 0.9257 | pathogenic | -0.363 | Destabilizing | 0.996 | D | 0.788 | deleterious | None | None | None | None | N |
| G/M | 0.9286 | likely_pathogenic | 0.9244 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.6069 | likely_pathogenic | 0.5725 | pathogenic | -0.525 | Destabilizing | 0.998 | D | 0.794 | deleterious | None | None | None | None | N |
| G/P | 0.9961 | likely_pathogenic | 0.9963 | pathogenic | -0.396 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/Q | 0.7335 | likely_pathogenic | 0.6949 | pathogenic | -0.721 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| G/R | 0.6746 | likely_pathogenic | 0.6254 | pathogenic | -0.585 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.467943338 | None | None | N |
| G/S | 0.2552 | likely_benign | 0.2568 | benign | -0.857 | Destabilizing | 0.998 | D | 0.778 | deleterious | N | 0.459180699 | None | None | N |
| G/T | 0.7289 | likely_pathogenic | 0.7301 | pathogenic | -0.85 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| G/V | 0.8823 | likely_pathogenic | 0.8877 | pathogenic | -0.396 | Destabilizing | 0.896 | D | 0.675 | prob.neutral | N | 0.477742707 | None | None | N |
| G/W | 0.9054 | likely_pathogenic | 0.8838 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/Y | 0.8823 | likely_pathogenic | 0.8671 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.821 | 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.