Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31683 | 95272;95273;95274 | chr2:178546284;178546283;178546282 | chr2:179411011;179411010;179411009 |
| N2AB | 30042 | 90349;90350;90351 | chr2:178546284;178546283;178546282 | chr2:179411011;179411010;179411009 |
| N2A | 29115 | 87568;87569;87570 | chr2:178546284;178546283;178546282 | chr2:179411011;179411010;179411009 |
| N2B | 22618 | 68077;68078;68079 | chr2:178546284;178546283;178546282 | chr2:179411011;179411010;179411009 |
| Novex-1 | 22743 | 68452;68453;68454 | chr2:178546284;178546283;178546282 | chr2:179411011;179411010;179411009 |
| Novex-2 | 22810 | 68653;68654;68655 | chr2:178546284;178546283;178546282 | chr2:179411011;179411010;179411009 |
| 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 | rs72648257  |
-1.243 | 0.98 | D | 0.57 | 0.282 | None | gnomAD-2.1.1 | 2.57578E-02 | None | None | None | None | N | None | 4.83671E-03 | 3.37746E-02 | None | 1.45978E-02 | 6.12193E-02 | None | 6.1458E-03 | None | 4.79047E-02 | 2.33092E-02 | 2.65226E-02 |
| S/G | rs72648257 |
-1.243 | 0.98 | D | 0.57 | 0.282 | None | gnomAD-3.1.2 | 2.02147E-02 | None | None | None | None | N | None | 4.4869E-03 | 2.18501E-02 | 3.07018E-02 | 1.90311E-02 | 6.0717E-02 | None | 4.46849E-02 | 6.32911E-03 | 2.34001E-02 | 8.06452E-03 | 1.91205E-02 |
| S/G | rs72648257 |
-1.243 | 0.98 | D | 0.57 | 0.282 | None | 1000 genomes | 2.23642E-02 | None | None | None | None | N | None | 8E-04 | 2.45E-02 | None | None | 6.05E-02 | 2.68E-02 | None | None | None | 6.1E-03 | None |
| S/G | rs72648257 |
-1.243 | 0.98 | D | 0.57 | 0.282 | None | gnomAD-4.0.0 | 2.28999E-02 | None | None | None | None | N | None | 4.30391E-03 | 2.95539E-02 | None | 1.48659E-02 | 6.30711E-02 | None | 4.76681E-02 | 9.74562E-03 | 2.24418E-02 | 6.79667E-03 | 2.17029E-02 |
| S/R | rs1697090717 |
None | 0.994 | N | 0.618 | 0.489 | 0.409533910539 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99493E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1451 | likely_benign | 0.1461 | benign | -0.678 | Destabilizing | 0.931 | D | 0.438 | neutral | None | None | None | None | N |
| S/C | 0.1865 | likely_benign | 0.1772 | benign | -0.405 | Destabilizing | 1.0 | D | 0.623 | neutral | D | 0.531579439 | None | None | N |
| S/D | 0.8387 | likely_pathogenic | 0.8522 | pathogenic | 0.225 | Stabilizing | 0.985 | D | 0.495 | neutral | None | None | None | None | N |
| S/E | 0.8966 | likely_pathogenic | 0.8981 | pathogenic | 0.167 | Stabilizing | 0.985 | D | 0.488 | neutral | None | None | None | None | N |
| S/F | 0.6494 | likely_pathogenic | 0.6746 | pathogenic | -1.147 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| S/G | 0.1023 | likely_benign | 0.1028 | benign | -0.842 | Destabilizing | 0.98 | D | 0.57 | neutral | D | 0.527365723 | None | None | N |
| S/H | 0.6753 | likely_pathogenic | 0.6647 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| S/I | 0.662 | likely_pathogenic | 0.7096 | pathogenic | -0.366 | Destabilizing | 0.989 | D | 0.633 | neutral | N | 0.51593072 | None | None | N |
| S/K | 0.9195 | likely_pathogenic | 0.9193 | pathogenic | -0.497 | Destabilizing | 0.97 | D | 0.489 | neutral | None | None | None | None | N |
| S/L | 0.3035 | likely_benign | 0.3351 | benign | -0.366 | Destabilizing | 0.97 | D | 0.595 | neutral | None | None | None | None | N |
| S/M | 0.3789 | ambiguous | 0.4154 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| S/N | 0.398 | ambiguous | 0.4173 | ambiguous | -0.32 | Destabilizing | 0.98 | D | 0.521 | neutral | N | 0.514916762 | None | None | N |
| S/P | 0.9417 | likely_pathogenic | 0.9473 | pathogenic | -0.44 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| S/Q | 0.8009 | likely_pathogenic | 0.7998 | pathogenic | -0.547 | Destabilizing | 0.999 | D | 0.529 | neutral | None | None | None | None | N |
| S/R | 0.8603 | likely_pathogenic | 0.8464 | pathogenic | -0.344 | Destabilizing | 0.994 | D | 0.618 | neutral | N | 0.501914615 | None | None | N |
| S/T | 0.0823 | likely_benign | 0.094 | benign | -0.45 | Destabilizing | 0.122 | N | 0.192 | neutral | N | 0.488327332 | None | None | N |
| S/V | 0.584 | likely_pathogenic | 0.6301 | pathogenic | -0.44 | Destabilizing | 0.97 | D | 0.6 | neutral | None | None | None | None | N |
| S/W | 0.7686 | likely_pathogenic | 0.7847 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| S/Y | 0.573 | likely_pathogenic | 0.5882 | pathogenic | -0.825 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | 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.