Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20062 | 60409;60410;60411 | chr2:178591635;178591634;178591633 | chr2:179456362;179456361;179456360 |
| N2AB | 18421 | 55486;55487;55488 | chr2:178591635;178591634;178591633 | chr2:179456362;179456361;179456360 |
| N2A | 17494 | 52705;52706;52707 | chr2:178591635;178591634;178591633 | chr2:179456362;179456361;179456360 |
| N2B | 10997 | 33214;33215;33216 | chr2:178591635;178591634;178591633 | chr2:179456362;179456361;179456360 |
| Novex-1 | 11122 | 33589;33590;33591 | chr2:178591635;178591634;178591633 | chr2:179456362;179456361;179456360 |
| Novex-2 | 11189 | 33790;33791;33792 | chr2:178591635;178591634;178591633 | chr2:179456362;179456361;179456360 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1403249185  |
None | 1.0 | N | 0.592 | 0.225 | 0.223847106136 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs1403249185 |
None | 1.0 | N | 0.592 | 0.225 | 0.223847106136 | gnomAD-4.0.0 | 6.57462E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs2050223526 |
None | 1.0 | N | 0.715 | 0.324 | 0.32714864917 | gnomAD-4.0.0 | 1.59204E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43369E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3547 | ambiguous | 0.426 | ambiguous | -0.532 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.50162105 | None | None | I |
| D/C | 0.8376 | likely_pathogenic | 0.9122 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| D/E | 0.5557 | ambiguous | 0.6279 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.592 | neutral | N | 0.502314484 | None | None | I |
| D/F | 0.9212 | likely_pathogenic | 0.9494 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| D/G | 0.5496 | ambiguous | 0.5781 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.453752533 | None | None | I |
| D/H | 0.6827 | likely_pathogenic | 0.7782 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.5026612 | None | None | I |
| D/I | 0.8448 | likely_pathogenic | 0.9152 | pathogenic | 0.491 | Stabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| D/K | 0.8334 | likely_pathogenic | 0.8941 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| D/L | 0.8546 | likely_pathogenic | 0.8967 | pathogenic | 0.491 | Stabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| D/M | 0.9294 | likely_pathogenic | 0.9533 | pathogenic | 0.941 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| D/N | 0.3074 | likely_benign | 0.3608 | ambiguous | -1.011 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.502487842 | None | None | I |
| D/P | 0.9845 | likely_pathogenic | 0.9871 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| D/Q | 0.7459 | likely_pathogenic | 0.8242 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| D/R | 0.8095 | likely_pathogenic | 0.8854 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| D/S | 0.2332 | likely_benign | 0.2817 | benign | -1.38 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| D/T | 0.6202 | likely_pathogenic | 0.7147 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| D/V | 0.5933 | likely_pathogenic | 0.737 | pathogenic | 0.176 | Stabilizing | 1.0 | D | 0.889 | deleterious | N | 0.502314484 | None | None | I |
| D/W | 0.987 | likely_pathogenic | 0.9927 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| D/Y | 0.6337 | likely_pathogenic | 0.7451 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.5026612 | None | None | I |
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.