Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17856 | 53791;53792;53793 | chr2:178607036;178607035;178607034 | chr2:179471763;179471762;179471761 |
| N2AB | 16215 | 48868;48869;48870 | chr2:178607036;178607035;178607034 | chr2:179471763;179471762;179471761 |
| N2A | 15288 | 46087;46088;46089 | chr2:178607036;178607035;178607034 | chr2:179471763;179471762;179471761 |
| N2B | 8791 | 26596;26597;26598 | chr2:178607036;178607035;178607034 | chr2:179471763;179471762;179471761 |
| Novex-1 | 8916 | 26971;26972;26973 | chr2:178607036;178607035;178607034 | chr2:179471763;179471762;179471761 |
| Novex-2 | 8983 | 27172;27173;27174 | chr2:178607036;178607035;178607034 | chr2:179471763;179471762;179471761 |
| 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/T | None | None | 0.991 | N | 0.689 | 0.248 | 0.302793454619 | gnomAD-4.0.0 | 6.86277E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00534E-07 | 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 | 0.8446 | likely_pathogenic | 0.8436 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.914 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/E | 0.997 | likely_pathogenic | 0.997 | pathogenic | -2.728 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.515677916 | None | None | N |
| A/F | 0.9851 | likely_pathogenic | 0.987 | pathogenic | -0.805 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| A/G | 0.7536 | likely_pathogenic | 0.7506 | pathogenic | -1.873 | Destabilizing | 0.999 | D | 0.566 | neutral | N | 0.500282686 | None | None | N |
| A/H | 0.9971 | likely_pathogenic | 0.9974 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/I | 0.9427 | likely_pathogenic | 0.9336 | pathogenic | -0.427 | Destabilizing | 0.987 | D | 0.752 | deleterious | None | None | None | None | N |
| A/K | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| A/L | 0.842 | likely_pathogenic | 0.8557 | pathogenic | -0.427 | Destabilizing | 0.987 | D | 0.619 | neutral | None | None | None | None | N |
| A/M | 0.9388 | likely_pathogenic | 0.9416 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/N | 0.9943 | likely_pathogenic | 0.9939 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/P | 0.9511 | likely_pathogenic | 0.9657 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.490572222 | None | None | N |
| A/Q | 0.9918 | likely_pathogenic | 0.9924 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| A/R | 0.9943 | likely_pathogenic | 0.9952 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/S | 0.6596 | likely_pathogenic | 0.6337 | pathogenic | -2.031 | Highly Destabilizing | 0.996 | D | 0.625 | neutral | N | 0.507916008 | None | None | N |
| A/T | 0.9196 | likely_pathogenic | 0.9119 | pathogenic | -1.749 | Destabilizing | 0.991 | D | 0.689 | prob.delet. | N | 0.468567173 | None | None | N |
| A/V | 0.8368 | likely_pathogenic | 0.8068 | pathogenic | -0.744 | Destabilizing | 0.779 | D | 0.336 | neutral | N | 0.46476483 | None | None | N |
| A/W | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/Y | 0.9952 | likely_pathogenic | 0.9959 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.751 | 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.