Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30508 | 91747;91748;91749 | chr2:178551009;178551008;178551007 | chr2:179415736;179415735;179415734 |
| N2AB | 28867 | 86824;86825;86826 | chr2:178551009;178551008;178551007 | chr2:179415736;179415735;179415734 |
| N2A | 27940 | 84043;84044;84045 | chr2:178551009;178551008;178551007 | chr2:179415736;179415735;179415734 |
| N2B | 21443 | 64552;64553;64554 | chr2:178551009;178551008;178551007 | chr2:179415736;179415735;179415734 |
| Novex-1 | 21568 | 64927;64928;64929 | chr2:178551009;178551008;178551007 | chr2:179415736;179415735;179415734 |
| Novex-2 | 21635 | 65128;65129;65130 | chr2:178551009;178551008;178551007 | chr2:179415736;179415735;179415734 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1265539582  |
-0.61 | 1.0 | N | 0.824 | 0.468 | 0.749380735757 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/L | rs1265539582 |
-0.61 | 1.0 | N | 0.824 | 0.468 | 0.749380735757 | gnomAD-4.0.0 | 1.59248E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43336E-05 | 0 |
| P/S | None | None | 1.0 | N | 0.76 | 0.425 | 0.36256342048 | gnomAD-4.0.0 | 1.59244E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.027E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1933 | likely_benign | 0.1675 | benign | -1.348 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.482658957 | None | None | N |
| P/C | 0.92 | likely_pathogenic | 0.8918 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/D | 0.9875 | likely_pathogenic | 0.9859 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/E | 0.9475 | likely_pathogenic | 0.9408 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| P/F | 0.9496 | likely_pathogenic | 0.9295 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/G | 0.8058 | likely_pathogenic | 0.7673 | pathogenic | -1.611 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/H | 0.8682 | likely_pathogenic | 0.8466 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.525009986 | None | None | N |
| P/I | 0.8934 | likely_pathogenic | 0.8747 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/K | 0.9677 | likely_pathogenic | 0.9602 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/L | 0.7397 | likely_pathogenic | 0.7003 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.515727142 | None | None | N |
| P/M | 0.906 | likely_pathogenic | 0.8829 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/N | 0.9654 | likely_pathogenic | 0.9634 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/Q | 0.8407 | likely_pathogenic | 0.8214 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/R | 0.9134 | likely_pathogenic | 0.9024 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.501118833 | None | None | N |
| P/S | 0.5943 | likely_pathogenic | 0.5655 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.493863905 | None | None | N |
| P/T | 0.7017 | likely_pathogenic | 0.6793 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.506145263 | None | None | N |
| P/V | 0.7573 | likely_pathogenic | 0.7257 | pathogenic | -0.911 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/W | 0.9861 | likely_pathogenic | 0.9797 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/Y | 0.9498 | likely_pathogenic | 0.9319 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.86 | 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.