Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21716 | 65371;65372;65373 | chr2:178584405;178584404;178584403 | chr2:179449132;179449131;179449130 |
| N2AB | 20075 | 60448;60449;60450 | chr2:178584405;178584404;178584403 | chr2:179449132;179449131;179449130 |
| N2A | 19148 | 57667;57668;57669 | chr2:178584405;178584404;178584403 | chr2:179449132;179449131;179449130 |
| N2B | 12651 | 38176;38177;38178 | chr2:178584405;178584404;178584403 | chr2:179449132;179449131;179449130 |
| Novex-1 | 12776 | 38551;38552;38553 | chr2:178584405;178584404;178584403 | chr2:179449132;179449131;179449130 |
| Novex-2 | 12843 | 38752;38753;38754 | chr2:178584405;178584404;178584403 | chr2:179449132;179449131;179449130 |
| 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 | rs13021201  |
0.1 | 0.669 | N | 0.344 | 0.36 | None | gnomAD-2.1.1 | 2.45023E-02 | None | None | None | None | N | None | 7.73303E-03 | 1.4949E-02 | None | 1.55009E-02 | 0 | None | 1.77159E-02 | None | 1.09539E-02 | 3.92778E-02 | 2.06577E-02 |
| S/L | rs13021201 |
0.1 | 0.669 | N | 0.344 | 0.36 | None | gnomAD-3.1.2 | 2.32567E-02 | None | None | None | None | N | None | 8.05985E-03 | 1.05532E-02 | 5.48246E-03 | 1.35447E-02 | 1.9425E-04 | None | 7.91408E-03 | 6.32911E-03 | 4.09899E-02 | 1.65769E-02 | 1.72084E-02 |
| S/L | rs13021201 |
0.1 | 0.669 | N | 0.344 | 0.36 | None | 1000 genomes | 1.07827E-02 | None | None | None | None | N | None | 0 | 1.01E-02 | None | None | 0 | 3.68E-02 | None | None | None | 1.02E-02 | None |
| S/L | rs13021201 |
0.1 | 0.669 | N | 0.344 | 0.36 | None | gnomAD-4.0.0 | 3.66102E-02 | None | None | None | None | N | None | 7.22667E-03 | 1.34883E-02 | None | 1.51085E-02 | 1.11692E-04 | None | 1.25609E-02 | 5.61241E-03 | 4.47323E-02 | 1.88924E-02 | 3.09968E-02 |
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 | 0.1064 | likely_benign | 0.095 | benign | -0.529 | Destabilizing | 0.022 | N | 0.095 | neutral | N | 0.444946622 | None | None | N |
| S/C | 0.1693 | likely_benign | 0.1322 | benign | -0.369 | Destabilizing | 0.998 | D | 0.335 | neutral | None | None | None | None | N |
| S/D | 0.5169 | ambiguous | 0.4315 | ambiguous | -0.024 | Destabilizing | 0.842 | D | 0.341 | neutral | None | None | None | None | N |
| S/E | 0.6668 | likely_pathogenic | 0.5761 | pathogenic | 0.05 | Stabilizing | 0.842 | D | 0.269 | neutral | None | None | None | None | N |
| S/F | 0.4191 | ambiguous | 0.325 | benign | -0.806 | Destabilizing | 0.974 | D | 0.412 | neutral | None | None | None | None | N |
| S/G | 0.0936 | likely_benign | 0.0817 | benign | -0.796 | Destabilizing | 0.688 | D | 0.291 | neutral | None | None | None | None | N |
| S/H | 0.4817 | ambiguous | 0.3952 | ambiguous | -0.982 | Destabilizing | 0.998 | D | 0.336 | neutral | None | None | None | None | N |
| S/I | 0.4281 | ambiguous | 0.3441 | ambiguous | 0.09 | Stabilizing | 0.949 | D | 0.397 | neutral | None | None | None | None | N |
| S/K | 0.8127 | likely_pathogenic | 0.712 | pathogenic | -0.104 | Destabilizing | 0.842 | D | 0.265 | neutral | None | None | None | None | N |
| S/L | 0.1922 | likely_benign | 0.152 | benign | 0.09 | Stabilizing | 0.669 | D | 0.344 | neutral | N | 0.501378695 | None | None | N |
| S/M | 0.2697 | likely_benign | 0.224 | benign | -0.102 | Destabilizing | 0.991 | D | 0.341 | neutral | None | None | None | None | N |
| S/N | 0.1522 | likely_benign | 0.1155 | benign | -0.404 | Destabilizing | 0.842 | D | 0.384 | neutral | None | None | None | None | N |
| S/P | 0.6964 | likely_pathogenic | 0.6092 | pathogenic | -0.084 | Destabilizing | 0.966 | D | 0.352 | neutral | N | 0.477395946 | None | None | N |
| S/Q | 0.5805 | likely_pathogenic | 0.5073 | ambiguous | -0.343 | Destabilizing | 0.974 | D | 0.376 | neutral | None | None | None | None | N |
| S/R | 0.7931 | likely_pathogenic | 0.6863 | pathogenic | -0.122 | Destabilizing | 0.974 | D | 0.363 | neutral | None | None | None | None | N |
| S/T | 0.0965 | likely_benign | 0.0877 | benign | -0.344 | Destabilizing | 0.022 | N | 0.092 | neutral | N | 0.421970975 | None | None | N |
| S/V | 0.3436 | ambiguous | 0.278 | benign | -0.084 | Destabilizing | 0.728 | D | 0.338 | neutral | None | None | None | None | N |
| S/W | 0.5972 | likely_pathogenic | 0.5172 | ambiguous | -0.933 | Destabilizing | 0.998 | D | 0.51 | neutral | None | None | None | None | N |
| S/Y | 0.3435 | ambiguous | 0.2728 | benign | -0.524 | Destabilizing | 0.991 | D | 0.406 | 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.