Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6109 | 18550;18551;18552 | chr2:178729928;178729927;178729926 | chr2:179594655;179594654;179594653 |
| N2AB | 5792 | 17599;17600;17601 | chr2:178729928;178729927;178729926 | chr2:179594655;179594654;179594653 |
| N2A | 4865 | 14818;14819;14820 | chr2:178729928;178729927;178729926 | chr2:179594655;179594654;179594653 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs73973139  |
0.161 | 0.64 | N | 0.433 | 0.176 | None | gnomAD-2.1.1 | 3.10033E-04 | None | None | None | None | N | None | 3.37107E-03 | 5.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.88E-06 | 2.83607E-04 |
| K/E | rs73973139 |
0.161 | 0.64 | N | 0.433 | 0.176 | None | gnomAD-3.1.2 | 8.41131E-04 | None | None | None | None | N | None | 2.96686E-03 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 1.47E-05 | 0 | 4.78011E-04 |
| K/E | rs73973139 |
0.161 | 0.64 | N | 0.433 | 0.176 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/E | rs73973139 |
0.161 | 0.64 | N | 0.433 | 0.176 | None | gnomAD-4.0.0 | 2.00315E-04 | None | None | None | None | N | None | 3.81374E-03 | 8.3626E-05 | None | 0 | 0 | None | 0 | 3.30907E-04 | 7.63176E-06 | 0 | 3.36517E-04 |
| K/N | rs556770980 |
-0.499 | 0.896 | N | 0.403 | 0.384 | 0.33340067248 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| K/N | rs556770980 |
-0.499 | 0.896 | N | 0.403 | 0.384 | 0.33340067248 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/N | rs556770980 |
-0.499 | 0.896 | N | 0.403 | 0.384 | 0.33340067248 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| K/N | rs556770980 |
-0.499 | 0.896 | N | 0.403 | 0.384 | 0.33340067248 | gnomAD-4.0.0 | 3.72104E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.0876E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3672 | ambiguous | 0.3315 | benign | -0.319 | Destabilizing | 0.919 | D | 0.415 | neutral | None | None | None | None | N |
| K/C | 0.7159 | likely_pathogenic | 0.6665 | pathogenic | -0.358 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| K/D | 0.6074 | likely_pathogenic | 0.5581 | ambiguous | 0.005 | Stabilizing | 0.919 | D | 0.446 | neutral | None | None | None | None | N |
| K/E | 0.1397 | likely_benign | 0.1385 | benign | 0.107 | Stabilizing | 0.64 | D | 0.433 | neutral | N | 0.497637462 | None | None | N |
| K/F | 0.7612 | likely_pathogenic | 0.7298 | pathogenic | 0.027 | Stabilizing | 0.996 | D | 0.62 | neutral | None | None | None | None | N |
| K/G | 0.4646 | ambiguous | 0.4172 | ambiguous | -0.67 | Destabilizing | 0.919 | D | 0.489 | neutral | None | None | None | None | N |
| K/H | 0.2933 | likely_benign | 0.2691 | benign | -0.948 | Destabilizing | 0.988 | D | 0.562 | neutral | None | None | None | None | N |
| K/I | 0.3569 | ambiguous | 0.336 | benign | 0.577 | Stabilizing | 0.988 | D | 0.615 | neutral | None | None | None | None | N |
| K/L | 0.3292 | likely_benign | 0.305 | benign | 0.577 | Stabilizing | 0.919 | D | 0.489 | neutral | None | None | None | None | N |
| K/M | 0.2377 | likely_benign | 0.2225 | benign | 0.269 | Stabilizing | 0.984 | D | 0.563 | neutral | N | 0.514650046 | None | None | N |
| K/N | 0.4198 | ambiguous | 0.3693 | ambiguous | -0.268 | Destabilizing | 0.896 | D | 0.403 | neutral | N | 0.494215159 | None | None | N |
| K/P | 0.8654 | likely_pathogenic | 0.8377 | pathogenic | 0.309 | Stabilizing | 0.988 | D | 0.517 | neutral | None | None | None | None | N |
| K/Q | 0.0958 | likely_benign | 0.0926 | benign | -0.287 | Destabilizing | 0.103 | N | 0.197 | neutral | N | 0.492786215 | None | None | N |
| K/R | 0.0769 | likely_benign | 0.0767 | benign | -0.531 | Destabilizing | 0.011 | N | 0.1 | neutral | N | 0.478070266 | None | None | N |
| K/S | 0.3754 | ambiguous | 0.3318 | benign | -0.828 | Destabilizing | 0.919 | D | 0.367 | neutral | None | None | None | None | N |
| K/T | 0.1759 | likely_benign | 0.1601 | benign | -0.53 | Destabilizing | 0.896 | D | 0.449 | neutral | D | 0.526304143 | None | None | N |
| K/V | 0.3295 | likely_benign | 0.3106 | benign | 0.309 | Stabilizing | 0.988 | D | 0.502 | neutral | None | None | None | None | N |
| K/W | 0.6949 | likely_pathogenic | 0.6682 | pathogenic | 0.085 | Stabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| K/Y | 0.6121 | likely_pathogenic | 0.5627 | ambiguous | 0.357 | Stabilizing | 0.996 | D | 0.59 | 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.