Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23242 | 69949;69950;69951 | chr2:178576408;178576407;178576406 | chr2:179441135;179441134;179441133 |
| N2AB | 21601 | 65026;65027;65028 | chr2:178576408;178576407;178576406 | chr2:179441135;179441134;179441133 |
| N2A | 20674 | 62245;62246;62247 | chr2:178576408;178576407;178576406 | chr2:179441135;179441134;179441133 |
| N2B | 14177 | 42754;42755;42756 | chr2:178576408;178576407;178576406 | chr2:179441135;179441134;179441133 |
| Novex-1 | 14302 | 43129;43130;43131 | chr2:178576408;178576407;178576406 | chr2:179441135;179441134;179441133 |
| Novex-2 | 14369 | 43330;43331;43332 | chr2:178576408;178576407;178576406 | chr2:179441135;179441134;179441133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.919 | N | 0.562 | 0.389 | 0.235038932564 | gnomAD-4.0.0 | 2.1109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72959E-06 | 0 | 0 |
| G/E | rs1292885710  |
-1.422 | 0.988 | N | 0.757 | 0.424 | 0.481393932785 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/E | rs1292885710 |
-1.422 | 0.988 | N | 0.757 | 0.424 | 0.481393932785 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1292885710 |
-1.422 | 0.988 | N | 0.757 | 0.424 | 0.481393932785 | gnomAD-4.0.0 | 1.27133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.5687E-07 | 0 | 1.64582E-05 |
| G/R | rs1312382242 |
-0.828 | 0.275 | N | 0.476 | 0.331 | 0.470318359215 | gnomAD-2.1.1 | 9.49E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2E-05 | 0 |
| G/R | rs1312382242 |
-0.828 | 0.275 | N | 0.476 | 0.331 | 0.470318359215 | gnomAD-4.0.0 | 7.03475E-07 | None | None | None | None | N | None | 0 | 3.01605E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4726 | ambiguous | 0.4401 | ambiguous | -0.834 | Destabilizing | 0.919 | D | 0.562 | neutral | N | 0.480052064 | None | None | N |
| G/C | 0.7711 | likely_pathogenic | 0.724 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/D | 0.9276 | likely_pathogenic | 0.8934 | pathogenic | -1.758 | Destabilizing | 0.991 | D | 0.78 | deleterious | None | None | None | None | N |
| G/E | 0.9287 | likely_pathogenic | 0.9027 | pathogenic | -1.788 | Destabilizing | 0.988 | D | 0.757 | deleterious | N | 0.49262291 | None | None | N |
| G/F | 0.9441 | likely_pathogenic | 0.9237 | pathogenic | -1.074 | Destabilizing | 0.999 | D | 0.82 | deleterious | None | None | None | None | N |
| G/H | 0.9622 | likely_pathogenic | 0.9459 | pathogenic | -1.448 | Destabilizing | 0.999 | D | 0.803 | deleterious | None | None | None | None | N |
| G/I | 0.9466 | likely_pathogenic | 0.9255 | pathogenic | -0.387 | Destabilizing | 0.995 | D | 0.823 | deleterious | None | None | None | None | N |
| G/K | 0.9779 | likely_pathogenic | 0.9671 | pathogenic | -1.305 | Destabilizing | 0.982 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/L | 0.9112 | likely_pathogenic | 0.8838 | pathogenic | -0.387 | Destabilizing | 0.991 | D | 0.783 | deleterious | None | None | None | None | N |
| G/M | 0.946 | likely_pathogenic | 0.9303 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/N | 0.9242 | likely_pathogenic | 0.8991 | pathogenic | -1.081 | Destabilizing | 0.991 | D | 0.777 | deleterious | None | None | None | None | N |
| G/P | 0.995 | likely_pathogenic | 0.9935 | pathogenic | -0.497 | Destabilizing | 0.995 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Q | 0.9383 | likely_pathogenic | 0.9188 | pathogenic | -1.267 | Destabilizing | 0.991 | D | 0.82 | deleterious | None | None | None | None | N |
| G/R | 0.9512 | likely_pathogenic | 0.93 | pathogenic | -1.033 | Destabilizing | 0.275 | N | 0.476 | neutral | N | 0.494397337 | None | None | N |
| G/S | 0.3176 | likely_benign | 0.2873 | benign | -1.305 | Destabilizing | 0.484 | N | 0.403 | neutral | None | None | None | None | N |
| G/T | 0.8422 | likely_pathogenic | 0.7987 | pathogenic | -1.267 | Destabilizing | 0.982 | D | 0.757 | deleterious | None | None | None | None | N |
| G/V | 0.9105 | likely_pathogenic | 0.8802 | pathogenic | -0.497 | Destabilizing | 0.988 | D | 0.805 | deleterious | N | 0.517781511 | None | None | N |
| G/W | 0.9375 | likely_pathogenic | 0.9126 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/Y | 0.9368 | likely_pathogenic | 0.9127 | pathogenic | -1.052 | Destabilizing | 1.0 | D | 0.822 | 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.