Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18661 | 56206;56207;56208 | chr2:178600923;178600922;178600921 | chr2:179465650;179465649;179465648 |
| N2AB | 17020 | 51283;51284;51285 | chr2:178600923;178600922;178600921 | chr2:179465650;179465649;179465648 |
| N2A | 16093 | 48502;48503;48504 | chr2:178600923;178600922;178600921 | chr2:179465650;179465649;179465648 |
| N2B | 9596 | 29011;29012;29013 | chr2:178600923;178600922;178600921 | chr2:179465650;179465649;179465648 |
| Novex-1 | 9721 | 29386;29387;29388 | chr2:178600923;178600922;178600921 | chr2:179465650;179465649;179465648 |
| Novex-2 | 9788 | 29587;29588;29589 | chr2:178600923;178600922;178600921 | chr2:179465650;179465649;179465648 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs370732855  |
-1.164 | 1.0 | D | 0.691 | 0.771 | 0.810460914683 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 4.07E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs370732855 |
-1.164 | 1.0 | D | 0.691 | 0.771 | 0.810460914683 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs370732855 |
-1.164 | 1.0 | D | 0.691 | 0.771 | 0.810460914683 | gnomAD-4.0.0 | 2.56494E-06 | None | None | None | None | N | None | 0 | 3.39236E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9196 | likely_pathogenic | 0.9391 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/D | 0.9965 | likely_pathogenic | 0.9982 | pathogenic | -2.667 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.644077884 | None | None | N |
| A/E | 0.9953 | likely_pathogenic | 0.9976 | pathogenic | -2.43 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/F | 0.9965 | likely_pathogenic | 0.9979 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/G | 0.5128 | ambiguous | 0.6124 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.617 | neutral | D | 0.584654451 | None | None | N |
| A/H | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/I | 0.9848 | likely_pathogenic | 0.9901 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/K | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/L | 0.9447 | likely_pathogenic | 0.9663 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/M | 0.9719 | likely_pathogenic | 0.9812 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/N | 0.9918 | likely_pathogenic | 0.995 | pathogenic | -1.917 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/P | 0.9893 | likely_pathogenic | 0.9941 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.617934359 | None | None | N |
| A/Q | 0.9937 | likely_pathogenic | 0.9962 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/R | 0.9962 | likely_pathogenic | 0.998 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/S | 0.4043 | ambiguous | 0.4497 | ambiguous | -2.268 | Highly Destabilizing | 1.0 | D | 0.601 | neutral | D | 0.575923276 | None | None | N |
| A/T | 0.7878 | likely_pathogenic | 0.8767 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.597796755 | None | None | N |
| A/V | 0.8722 | likely_pathogenic | 0.9171 | pathogenic | -1.22 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.616925338 | None | None | N |
| A/W | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/Y | 0.9977 | likely_pathogenic | 0.9986 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.883 | 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.