Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30458 | 91597;91598;91599 | chr2:178551159;178551158;178551157 | chr2:179415886;179415885;179415884 |
| N2AB | 28817 | 86674;86675;86676 | chr2:178551159;178551158;178551157 | chr2:179415886;179415885;179415884 |
| N2A | 27890 | 83893;83894;83895 | chr2:178551159;178551158;178551157 | chr2:179415886;179415885;179415884 |
| N2B | 21393 | 64402;64403;64404 | chr2:178551159;178551158;178551157 | chr2:179415886;179415885;179415884 |
| Novex-1 | 21518 | 64777;64778;64779 | chr2:178551159;178551158;178551157 | chr2:179415886;179415885;179415884 |
| Novex-2 | 21585 | 64978;64979;64980 | chr2:178551159;178551158;178551157 | chr2:179415886;179415885;179415884 |
| 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/G | None | None | 0.565 | N | 0.667 | 0.142 | 0.235038932564 | gnomAD-4.0.0 | 1.5918E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85922E-06 | 0 | 0 |
| S/N | rs376634713  |
-1.264 | 0.008 | N | 0.499 | 0.044 | None | gnomAD-2.1.1 | 7.86E-05 | None | None | None | None | N | None | 8.27E-05 | 1.13282E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.17308E-04 | 1.40489E-04 |
| S/N | rs376634713 |
-1.264 | 0.008 | N | 0.499 | 0.044 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47003E-04 | 0 | 0 |
| S/N | rs376634713 |
-1.264 | 0.008 | N | 0.499 | 0.044 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/N | rs376634713 |
-1.264 | 0.008 | N | 0.499 | 0.044 | None | gnomAD-4.0.0 | 7.80872E-05 | None | None | None | None | N | None | 3.99947E-05 | 1.1669E-04 | None | 0 | 0 | None | 0 | 0 | 9.49416E-05 | 0 | 6.40348E-05 |
| S/R | rs762232248 |
-0.73 | 0.901 | N | 0.708 | 0.227 | 0.279776271856 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| S/R | rs762232248 |
-0.73 | 0.901 | N | 0.708 | 0.227 | 0.279776271856 | gnomAD-4.0.0 | 3.18366E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86574E-05 | 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 | 0.1118 | likely_benign | 0.1056 | benign | -0.848 | Destabilizing | 0.587 | D | 0.637 | neutral | None | None | None | None | N |
| S/C | 0.0979 | likely_benign | 0.0854 | benign | -0.737 | Destabilizing | 0.018 | N | 0.611 | neutral | N | 0.484235729 | None | None | N |
| S/D | 0.8071 | likely_pathogenic | 0.8058 | pathogenic | -1.001 | Destabilizing | 0.633 | D | 0.693 | prob.neutral | None | None | None | None | N |
| S/E | 0.8632 | likely_pathogenic | 0.8439 | pathogenic | -0.858 | Destabilizing | 0.775 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/F | 0.2823 | likely_benign | 0.2391 | benign | -0.747 | Destabilizing | 0.987 | D | 0.741 | deleterious | None | None | None | None | N |
| S/G | 0.1749 | likely_benign | 0.1804 | benign | -1.21 | Destabilizing | 0.565 | D | 0.667 | neutral | N | 0.492777855 | None | None | N |
| S/H | 0.4897 | ambiguous | 0.4622 | ambiguous | -1.496 | Destabilizing | 0.979 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/I | 0.169 | likely_benign | 0.158 | benign | 0.051 | Stabilizing | 0.949 | D | 0.713 | prob.delet. | N | 0.346977358 | None | None | N |
| S/K | 0.9402 | likely_pathogenic | 0.9311 | pathogenic | -0.412 | Destabilizing | 0.633 | D | 0.704 | prob.neutral | None | None | None | None | N |
| S/L | 0.1352 | likely_benign | 0.1229 | benign | 0.051 | Stabilizing | 0.775 | D | 0.716 | prob.delet. | None | None | None | None | N |
| S/M | 0.1888 | likely_benign | 0.175 | benign | -0.03 | Destabilizing | 0.996 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/N | 0.2003 | likely_benign | 0.205 | benign | -0.922 | Destabilizing | 0.008 | N | 0.499 | neutral | N | 0.450448443 | None | None | N |
| S/P | 0.9794 | likely_pathogenic | 0.9801 | pathogenic | -0.214 | Destabilizing | 0.961 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/Q | 0.6893 | likely_pathogenic | 0.6669 | pathogenic | -0.809 | Destabilizing | 0.923 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/R | 0.8989 | likely_pathogenic | 0.8852 | pathogenic | -0.59 | Destabilizing | 0.901 | D | 0.708 | prob.delet. | N | 0.453005958 | None | None | N |
| S/T | 0.0897 | likely_benign | 0.0821 | benign | -0.711 | Destabilizing | 0.722 | D | 0.645 | neutral | N | 0.415162433 | None | None | N |
| S/V | 0.1774 | likely_benign | 0.1645 | benign | -0.214 | Destabilizing | 0.923 | D | 0.71 | prob.delet. | None | None | None | None | N |
| S/W | 0.5107 | ambiguous | 0.4696 | ambiguous | -0.864 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | N |
| S/Y | 0.2598 | likely_benign | 0.2268 | benign | -0.469 | Destabilizing | 0.987 | D | 0.741 | 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.