Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18772 | 56539;56540;56541 | chr2:178599587;178599586;178599585 | chr2:179464314;179464313;179464312 |
| N2AB | 17131 | 51616;51617;51618 | chr2:178599587;178599586;178599585 | chr2:179464314;179464313;179464312 |
| N2A | 16204 | 48835;48836;48837 | chr2:178599587;178599586;178599585 | chr2:179464314;179464313;179464312 |
| N2B | 9707 | 29344;29345;29346 | chr2:178599587;178599586;178599585 | chr2:179464314;179464313;179464312 |
| Novex-1 | 9832 | 29719;29720;29721 | chr2:178599587;178599586;178599585 | chr2:179464314;179464313;179464312 |
| Novex-2 | 9899 | 29920;29921;29922 | chr2:178599587;178599586;178599585 | chr2:179464314;179464313;179464312 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs964263107  |
-0.162 | 0.948 | D | 0.48 | 0.195 | 0.311691414656 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs964263107 |
-0.162 | 0.948 | D | 0.48 | 0.195 | 0.311691414656 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs964263107 |
-0.162 | 0.948 | D | 0.48 | 0.195 | 0.311691414656 | gnomAD-4.0.0 | 1.97254E-05 | None | None | None | None | I | None | 7.23833E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs370118111 |
-0.024 | 0.998 | N | 0.542 | 0.262 | None | gnomAD-2.1.1 | 8.42E-06 | None | None | None | None | I | None | 0 | 6.09E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs370118111 |
-0.024 | 0.998 | N | 0.542 | 0.262 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | I | None | 2.41E-05 | 3.28084E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.44092E-03 |
| T/I | rs370118111 |
-0.024 | 0.998 | N | 0.542 | 0.262 | None | gnomAD-4.0.0 | 1.96885E-05 | None | None | None | None | I | None | 1.71057E-05 | 1.39943E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.74581E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0882 | likely_benign | 0.0898 | benign | -0.291 | Destabilizing | 0.948 | D | 0.48 | neutral | D | 0.525130707 | None | None | I |
| T/C | 0.3583 | ambiguous | 0.3853 | ambiguous | -0.275 | Destabilizing | 1.0 | D | 0.556 | neutral | None | None | None | None | I |
| T/D | 0.3694 | ambiguous | 0.3703 | ambiguous | 0.081 | Stabilizing | 0.998 | D | 0.49 | neutral | None | None | None | None | I |
| T/E | 0.1964 | likely_benign | 0.2182 | benign | -0.012 | Destabilizing | 0.992 | D | 0.542 | neutral | None | None | None | None | I |
| T/F | 0.2029 | likely_benign | 0.2049 | benign | -0.897 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | I |
| T/G | 0.2801 | likely_benign | 0.2773 | benign | -0.377 | Destabilizing | 0.992 | D | 0.585 | neutral | None | None | None | None | I |
| T/H | 0.2224 | likely_benign | 0.2244 | benign | -0.671 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | I |
| T/I | 0.1188 | likely_benign | 0.1314 | benign | -0.188 | Destabilizing | 0.998 | D | 0.542 | neutral | N | 0.514935143 | None | None | I |
| T/K | 0.1326 | likely_benign | 0.1337 | benign | -0.315 | Destabilizing | 0.733 | D | 0.385 | neutral | N | 0.46023108 | None | None | I |
| T/L | 0.1021 | likely_benign | 0.106 | benign | -0.188 | Destabilizing | 0.996 | D | 0.55 | neutral | None | None | None | None | I |
| T/M | 0.0828 | likely_benign | 0.0853 | benign | -0.041 | Destabilizing | 1.0 | D | 0.531 | neutral | None | None | None | None | I |
| T/N | 0.1151 | likely_benign | 0.1183 | benign | -0.103 | Destabilizing | 0.998 | D | 0.494 | neutral | None | None | None | None | I |
| T/P | 0.3757 | ambiguous | 0.3193 | benign | -0.197 | Destabilizing | 0.998 | D | 0.543 | neutral | N | 0.492480413 | None | None | I |
| T/Q | 0.1673 | likely_benign | 0.1707 | benign | -0.344 | Destabilizing | 0.998 | D | 0.539 | neutral | None | None | None | None | I |
| T/R | 0.143 | likely_benign | 0.1382 | benign | -0.047 | Destabilizing | 0.994 | D | 0.493 | neutral | N | 0.503659357 | None | None | I |
| T/S | 0.1042 | likely_benign | 0.1062 | benign | -0.276 | Destabilizing | 0.775 | D | 0.31 | neutral | N | 0.444899055 | None | None | I |
| T/V | 0.0986 | likely_benign | 0.1078 | benign | -0.197 | Destabilizing | 0.996 | D | 0.507 | neutral | None | None | None | None | I |
| T/W | 0.6079 | likely_pathogenic | 0.5896 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| T/Y | 0.2558 | likely_benign | 0.2569 | benign | -0.632 | Destabilizing | 1.0 | D | 0.622 | neutral | 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.