Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7726 | 23401;23402;23403 | chr2:178720586;178720585;178720584 | chr2:179585313;179585312;179585311 |
| N2AB | 7409 | 22450;22451;22452 | chr2:178720586;178720585;178720584 | chr2:179585313;179585312;179585311 |
| N2A | 6482 | 19669;19670;19671 | chr2:178720586;178720585;178720584 | chr2:179585313;179585312;179585311 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs17452588  |
0.102 | 0.031 | N | 0.284 | 0.202 | None | gnomAD-2.1.1 | 7.25853E-03 | None | None | None | None | N | None | 1.32538E-03 | 2.49575E-03 | None | 1.20202E-02 | 5.15E-05 | None | 1.37506E-03 | None | 3.02046E-02 | 7.39956E-03 | 6.07173E-03 |
| S/L | rs17452588 |
0.102 | 0.031 | N | 0.284 | 0.202 | None | gnomAD-3.1.2 | 6.66184E-03 | None | None | None | None | N | None | 1.30365E-03 | 3.99528E-03 | 7.67544E-03 | 1.09636E-02 | 0 | None | 2.93562E-02 | 0 | 7.78056E-03 | 1.45108E-03 | 2.87081E-03 |
| S/L | rs17452588 |
0.102 | 0.031 | N | 0.284 | 0.202 | None | 1000 genomes | 1.99681E-03 | None | None | None | None | N | None | 0 | 2.9E-03 | None | None | 0 | 8E-03 | None | None | None | 0 | None |
| S/L | rs17452588 |
0.102 | 0.031 | N | 0.284 | 0.202 | None | gnomAD-4.0.0 | 7.11628E-03 | None | None | None | None | N | None | 1.16046E-03 | 2.81836E-03 | None | 1.07181E-02 | 2.23125E-05 | None | 2.7213E-02 | 3.3036E-04 | 7.34631E-03 | 1.49421E-03 | 5.70093E-03 |
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 | 0.0718 | likely_benign | 0.0701 | benign | -0.533 | Destabilizing | 0.002 | N | 0.078 | neutral | N | 0.450654378 | None | None | N |
| S/C | 0.1539 | likely_benign | 0.1574 | benign | -0.212 | Destabilizing | 0.985 | D | 0.291 | neutral | None | None | None | None | N |
| S/D | 0.4079 | ambiguous | 0.405 | ambiguous | 0.476 | Stabilizing | 0.543 | D | 0.173 | neutral | None | None | None | None | N |
| S/E | 0.4192 | ambiguous | 0.4255 | ambiguous | 0.539 | Stabilizing | 0.704 | D | 0.183 | neutral | None | None | None | None | N |
| S/F | 0.1557 | likely_benign | 0.1506 | benign | -0.717 | Destabilizing | 0.893 | D | 0.342 | neutral | None | None | None | None | N |
| S/G | 0.1289 | likely_benign | 0.1324 | benign | -0.817 | Destabilizing | 0.329 | N | 0.226 | neutral | None | None | None | None | N |
| S/H | 0.3019 | likely_benign | 0.3066 | benign | -1.085 | Destabilizing | 0.944 | D | 0.303 | neutral | None | None | None | None | N |
| S/I | 0.1465 | likely_benign | 0.1432 | benign | 0.127 | Stabilizing | 0.543 | D | 0.311 | neutral | None | None | None | None | N |
| S/K | 0.5213 | ambiguous | 0.5209 | ambiguous | 0.037 | Stabilizing | 0.031 | N | 0.117 | neutral | None | None | None | None | N |
| S/L | 0.0843 | likely_benign | 0.0796 | benign | 0.127 | Stabilizing | 0.031 | N | 0.284 | neutral | N | 0.482670796 | None | None | N |
| S/M | 0.1734 | likely_benign | 0.169 | benign | 0.044 | Stabilizing | 0.893 | D | 0.305 | neutral | None | None | None | None | N |
| S/N | 0.1762 | likely_benign | 0.1723 | benign | -0.156 | Destabilizing | 0.031 | N | 0.18 | neutral | None | None | None | None | N |
| S/P | 0.8977 | likely_pathogenic | 0.8972 | pathogenic | -0.058 | Destabilizing | 0.784 | D | 0.34 | neutral | N | 0.50767506 | None | None | N |
| S/Q | 0.3899 | ambiguous | 0.3989 | ambiguous | -0.104 | Destabilizing | 0.893 | D | 0.306 | neutral | None | None | None | None | N |
| S/R | 0.4067 | ambiguous | 0.4196 | ambiguous | -0.086 | Destabilizing | 0.543 | D | 0.319 | neutral | None | None | None | None | N |
| S/T | 0.0744 | likely_benign | 0.0716 | benign | -0.164 | Destabilizing | 0.01 | N | 0.089 | neutral | N | 0.449787587 | None | None | N |
| S/V | 0.1614 | likely_benign | 0.1564 | benign | -0.058 | Destabilizing | 0.329 | N | 0.287 | neutral | None | None | None | None | N |
| S/W | 0.3196 | likely_benign | 0.312 | benign | -0.775 | Destabilizing | 0.997 | D | 0.378 | neutral | N | 0.492786809 | None | None | N |
| S/Y | 0.1756 | likely_benign | 0.1725 | benign | -0.399 | Destabilizing | 0.981 | D | 0.342 | 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.