Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23182 | 69769;69770;69771 | chr2:178576700;178576699;178576698 | chr2:179441427;179441426;179441425 |
| N2AB | 21541 | 64846;64847;64848 | chr2:178576700;178576699;178576698 | chr2:179441427;179441426;179441425 |
| N2A | 20614 | 62065;62066;62067 | chr2:178576700;178576699;178576698 | chr2:179441427;179441426;179441425 |
| N2B | 14117 | 42574;42575;42576 | chr2:178576700;178576699;178576698 | chr2:179441427;179441426;179441425 |
| Novex-1 | 14242 | 42949;42950;42951 | chr2:178576700;178576699;178576698 | chr2:179441427;179441426;179441425 |
| Novex-2 | 14309 | 43150;43151;43152 | chr2:178576700;178576699;178576698 | chr2:179441427;179441426;179441425 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | None | None | 0.822 | N | 0.433 | 0.219 | 0.270447802918 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| K/Q | rs1383372565  |
0.011 | 0.942 | N | 0.391 | 0.239 | 0.260249123532 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/Q | rs1383372565 |
0.011 | 0.942 | N | 0.391 | 0.239 | 0.260249123532 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs1383372565 |
0.011 | 0.942 | N | 0.391 | 0.239 | 0.260249123532 | gnomAD-4.0.0 | 6.57748E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs773432437 |
0.1 | 0.014 | N | 0.315 | 0.057 | 0.243972157842 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 1.65563E-04 |
| K/R | rs773432437 |
0.1 | 0.014 | N | 0.315 | 0.057 | 0.243972157842 | 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 |
| K/R | rs773432437 |
0.1 | 0.014 | N | 0.315 | 0.057 | 0.243972157842 | gnomAD-4.0.0 | 2.35522E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62794E-05 | 0 | 1.12093E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3516 | ambiguous | 0.3598 | ambiguous | 0.018 | Stabilizing | 0.86 | D | 0.437 | neutral | None | None | None | None | N |
| K/C | 0.7064 | likely_pathogenic | 0.7342 | pathogenic | -0.403 | Destabilizing | 0.998 | D | 0.578 | neutral | None | None | None | None | N |
| K/D | 0.4756 | ambiguous | 0.4878 | ambiguous | -0.198 | Destabilizing | 0.978 | D | 0.409 | neutral | None | None | None | None | N |
| K/E | 0.2889 | likely_benign | 0.2928 | benign | -0.216 | Destabilizing | 0.822 | D | 0.433 | neutral | N | 0.465588466 | None | None | N |
| K/F | 0.7939 | likely_pathogenic | 0.7917 | pathogenic | -0.346 | Destabilizing | 0.956 | D | 0.509 | neutral | None | None | None | None | N |
| K/G | 0.3072 | likely_benign | 0.3024 | benign | -0.102 | Destabilizing | 0.926 | D | 0.401 | neutral | None | None | None | None | N |
| K/H | 0.2841 | likely_benign | 0.298 | benign | -0.232 | Destabilizing | 0.998 | D | 0.402 | neutral | None | None | None | None | N |
| K/I | 0.5011 | ambiguous | 0.5026 | ambiguous | 0.247 | Stabilizing | 0.89 | D | 0.523 | neutral | N | 0.475420936 | None | None | N |
| K/L | 0.4167 | ambiguous | 0.4192 | ambiguous | 0.247 | Stabilizing | 0.514 | D | 0.451 | neutral | None | None | None | None | N |
| K/M | 0.292 | likely_benign | 0.2967 | benign | -0.049 | Destabilizing | 0.559 | D | 0.435 | neutral | None | None | None | None | N |
| K/N | 0.3004 | likely_benign | 0.3089 | benign | 0.072 | Stabilizing | 0.97 | D | 0.368 | neutral | N | 0.457851631 | None | None | N |
| K/P | 0.7016 | likely_pathogenic | 0.6915 | pathogenic | 0.194 | Stabilizing | 0.993 | D | 0.405 | neutral | None | None | None | None | N |
| K/Q | 0.1552 | likely_benign | 0.1579 | benign | -0.079 | Destabilizing | 0.942 | D | 0.391 | neutral | N | 0.504088139 | None | None | N |
| K/R | 0.0867 | likely_benign | 0.0889 | benign | -0.088 | Destabilizing | 0.014 | N | 0.315 | neutral | N | 0.446175986 | None | None | N |
| K/S | 0.3593 | ambiguous | 0.3652 | ambiguous | -0.31 | Destabilizing | 0.86 | D | 0.402 | neutral | None | None | None | None | N |
| K/T | 0.1789 | likely_benign | 0.1864 | benign | -0.213 | Destabilizing | 0.942 | D | 0.391 | neutral | N | 0.49223635 | None | None | N |
| K/V | 0.4429 | ambiguous | 0.4511 | ambiguous | 0.194 | Stabilizing | 0.754 | D | 0.401 | neutral | None | None | None | None | N |
| K/W | 0.7833 | likely_pathogenic | 0.7908 | pathogenic | -0.443 | Destabilizing | 0.998 | D | 0.618 | neutral | None | None | None | None | N |
| K/Y | 0.6122 | likely_pathogenic | 0.6126 | pathogenic | -0.085 | Destabilizing | 0.978 | D | 0.467 | 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.