Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30425 | 91498;91499;91500 | chr2:178551258;178551257;178551256 | chr2:179415985;179415984;179415983 |
| N2AB | 28784 | 86575;86576;86577 | chr2:178551258;178551257;178551256 | chr2:179415985;179415984;179415983 |
| N2A | 27857 | 83794;83795;83796 | chr2:178551258;178551257;178551256 | chr2:179415985;179415984;179415983 |
| N2B | 21360 | 64303;64304;64305 | chr2:178551258;178551257;178551256 | chr2:179415985;179415984;179415983 |
| Novex-1 | 21485 | 64678;64679;64680 | chr2:178551258;178551257;178551256 | chr2:179415985;179415984;179415983 |
| Novex-2 | 21552 | 64879;64880;64881 | chr2:178551258;178551257;178551256 | chr2:179415985;179415984;179415983 |
| 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 | None | None | 1.0 | N | 0.891 | 0.441 | 0.795852534775 | gnomAD-4.0.0 | 2.06199E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.36312E-05 | 1.6624E-05 |
| P/Q | rs1373323809  |
-1.648 | 1.0 | N | 0.877 | 0.425 | 0.575346514103 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.64E-05 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs1373323809 |
-1.648 | 1.0 | N | 0.877 | 0.425 | 0.575346514103 | gnomAD-4.0.0 | 1.37466E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.3248E-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 | 0.1378 | likely_benign | 0.1224 | benign | -1.5 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.445383766 | None | None | N |
| P/C | 0.7187 | likely_pathogenic | 0.7112 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/D | 0.9573 | likely_pathogenic | 0.9577 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/E | 0.7907 | likely_pathogenic | 0.7937 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/F | 0.867 | likely_pathogenic | 0.8701 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/G | 0.7421 | likely_pathogenic | 0.7221 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.6331 | likely_pathogenic | 0.6438 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/I | 0.6411 | likely_pathogenic | 0.6514 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/K | 0.7702 | likely_pathogenic | 0.7745 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/L | 0.441 | ambiguous | 0.4746 | ambiguous | -0.865 | Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.488591348 | None | None | N |
| P/M | 0.6522 | likely_pathogenic | 0.6637 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/N | 0.8444 | likely_pathogenic | 0.8466 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/Q | 0.5004 | ambiguous | 0.4979 | ambiguous | -1.235 | Destabilizing | 1.0 | D | 0.877 | deleterious | N | 0.480891892 | None | None | N |
| P/R | 0.5928 | likely_pathogenic | 0.6091 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.917 | deleterious | N | 0.469219645 | None | None | N |
| P/S | 0.3473 | ambiguous | 0.3293 | benign | -1.42 | Destabilizing | 1.0 | D | 0.862 | deleterious | N | 0.516038716 | None | None | N |
| P/T | 0.3647 | ambiguous | 0.3725 | ambiguous | -1.36 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.470803034 | None | None | N |
| P/V | 0.4851 | ambiguous | 0.4908 | ambiguous | -1.044 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/W | 0.9554 | likely_pathogenic | 0.9579 | pathogenic | -1.513 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/Y | 0.8653 | likely_pathogenic | 0.874 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.935 | 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.