Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20379 | 61360;61361;61362 | chr2:178590590;178590589;178590588 | chr2:179455317;179455316;179455315 |
| N2AB | 18738 | 56437;56438;56439 | chr2:178590590;178590589;178590588 | chr2:179455317;179455316;179455315 |
| N2A | 17811 | 53656;53657;53658 | chr2:178590590;178590589;178590588 | chr2:179455317;179455316;179455315 |
| N2B | 11314 | 34165;34166;34167 | chr2:178590590;178590589;178590588 | chr2:179455317;179455316;179455315 |
| Novex-1 | 11439 | 34540;34541;34542 | chr2:178590590;178590589;178590588 | chr2:179455317;179455316;179455315 |
| Novex-2 | 11506 | 34741;34742;34743 | chr2:178590590;178590589;178590588 | chr2:179455317;179455316;179455315 |
| 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 | rs775620011  |
0.298 | 0.999 | N | 0.631 | 0.357 | 0.370051654043 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| K/E | rs775620011 |
0.298 | 0.999 | N | 0.631 | 0.357 | 0.370051654043 | gnomAD-4.0.0 | 1.59411E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43682E-05 | 0 |
| K/T | None | None | 1.0 | N | 0.8 | 0.382 | 0.412715890961 | gnomAD-4.0.0 | 1.59412E-06 | None | None | None | None | N | None | 0 | 2.29158E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.7572 | likely_pathogenic | 0.7217 | pathogenic | -0.129 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/C | 0.8167 | likely_pathogenic | 0.8172 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| K/D | 0.9606 | likely_pathogenic | 0.9488 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/E | 0.6714 | likely_pathogenic | 0.6101 | pathogenic | 0.015 | Stabilizing | 0.999 | D | 0.631 | neutral | N | 0.435788421 | None | None | N |
| K/F | 0.9272 | likely_pathogenic | 0.9124 | pathogenic | 0.025 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| K/G | 0.8945 | likely_pathogenic | 0.8683 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/H | 0.5419 | ambiguous | 0.5141 | ambiguous | -0.726 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| K/I | 0.5848 | likely_pathogenic | 0.559 | ambiguous | 0.616 | Stabilizing | 1.0 | D | 0.829 | deleterious | D | 0.524908916 | None | None | N |
| K/L | 0.6658 | likely_pathogenic | 0.6447 | pathogenic | 0.616 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/M | 0.5592 | ambiguous | 0.5388 | ambiguous | 0.247 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| K/N | 0.9028 | likely_pathogenic | 0.8868 | pathogenic | -0.103 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.472498101 | None | None | N |
| K/P | 0.9896 | likely_pathogenic | 0.9888 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| K/Q | 0.2967 | likely_benign | 0.2794 | benign | -0.157 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.501895983 | None | None | N |
| K/R | 0.0899 | likely_benign | 0.0878 | benign | -0.375 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.480981993 | None | None | N |
| K/S | 0.8616 | likely_pathogenic | 0.8382 | pathogenic | -0.572 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| K/T | 0.54 | ambiguous | 0.5004 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.491966991 | None | None | N |
| K/V | 0.4995 | ambiguous | 0.4813 | ambiguous | 0.398 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| K/W | 0.9298 | likely_pathogenic | 0.92 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| K/Y | 0.862 | likely_pathogenic | 0.8425 | pathogenic | 0.326 | Stabilizing | 1.0 | D | 0.811 | deleterious | 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.