Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29924 | 89995;89996;89997 | chr2:178553130;178553129;178553128 | chr2:179417857;179417856;179417855 |
| N2AB | 28283 | 85072;85073;85074 | chr2:178553130;178553129;178553128 | chr2:179417857;179417856;179417855 |
| N2A | 27356 | 82291;82292;82293 | chr2:178553130;178553129;178553128 | chr2:179417857;179417856;179417855 |
| N2B | 20859 | 62800;62801;62802 | chr2:178553130;178553129;178553128 | chr2:179417857;179417856;179417855 |
| Novex-1 | 20984 | 63175;63176;63177 | chr2:178553130;178553129;178553128 | chr2:179417857;179417856;179417855 |
| Novex-2 | 21051 | 63376;63377;63378 | chr2:178553130;178553129;178553128 | chr2:179417857;179417856;179417855 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs1391021761  |
-0.035 | 0.454 | N | 0.559 | 0.22 | 0.501308276186 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs1391021761 |
-0.035 | 0.454 | N | 0.559 | 0.22 | 0.501308276186 | 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 |
| S/L | rs1391021761 |
-0.035 | 0.454 | N | 0.559 | 0.22 | 0.501308276186 | gnomAD-4.0.0 | 2.56692E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.42624E-05 | None | 0 | 0 | 2.39953E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0822 | likely_benign | 0.0824 | benign | -0.561 | Destabilizing | 0.267 | N | 0.337 | neutral | N | 0.364110042 | None | None | N |
| S/C | 0.0935 | likely_benign | 0.1004 | benign | -0.36 | Destabilizing | 0.998 | D | 0.617 | neutral | None | None | None | None | N |
| S/D | 0.7922 | likely_pathogenic | 0.7055 | pathogenic | 0.755 | Stabilizing | 0.842 | D | 0.56 | neutral | None | None | None | None | N |
| S/E | 0.7862 | likely_pathogenic | 0.7095 | pathogenic | 0.703 | Stabilizing | 0.842 | D | 0.539 | neutral | None | None | None | None | N |
| S/F | 0.3051 | likely_benign | 0.29 | benign | -1.127 | Destabilizing | 0.974 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/G | 0.1739 | likely_benign | 0.1757 | benign | -0.699 | Destabilizing | 0.842 | D | 0.522 | neutral | None | None | None | None | N |
| S/H | 0.5465 | ambiguous | 0.489 | ambiguous | -1.126 | Destabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
| S/I | 0.1859 | likely_benign | 0.1726 | benign | -0.316 | Destabilizing | 0.029 | N | 0.385 | neutral | None | None | None | None | N |
| S/K | 0.8887 | likely_pathogenic | 0.8494 | pathogenic | -0.165 | Destabilizing | 0.842 | D | 0.539 | neutral | None | None | None | None | N |
| S/L | 0.1373 | likely_benign | 0.1307 | benign | -0.316 | Destabilizing | 0.454 | N | 0.559 | neutral | N | 0.514031066 | None | None | N |
| S/M | 0.2276 | likely_benign | 0.2204 | benign | -0.187 | Destabilizing | 0.974 | D | 0.639 | neutral | None | None | None | None | N |
| S/N | 0.3007 | likely_benign | 0.275 | benign | -0.05 | Destabilizing | 0.842 | D | 0.581 | neutral | None | None | None | None | N |
| S/P | 0.9353 | likely_pathogenic | 0.9292 | pathogenic | -0.369 | Destabilizing | 0.966 | D | 0.647 | neutral | N | 0.495318023 | None | None | N |
| S/Q | 0.6872 | likely_pathogenic | 0.6332 | pathogenic | -0.173 | Destabilizing | 0.974 | D | 0.603 | neutral | None | None | None | None | N |
| S/R | 0.8386 | likely_pathogenic | 0.7934 | pathogenic | -0.125 | Destabilizing | 0.974 | D | 0.649 | neutral | None | None | None | None | N |
| S/T | 0.0942 | likely_benign | 0.0952 | benign | -0.191 | Destabilizing | 0.022 | N | 0.139 | neutral | N | 0.448344792 | None | None | N |
| S/V | 0.1674 | likely_benign | 0.1604 | benign | -0.369 | Destabilizing | 0.029 | N | 0.387 | neutral | None | None | None | None | N |
| S/W | 0.5498 | ambiguous | 0.5138 | ambiguous | -1.104 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2769 | likely_benign | 0.2521 | benign | -0.801 | Destabilizing | 0.991 | D | 0.689 | prob.neutral | 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.