Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17896 | 53911;53912;53913 | chr2:178605609;178605608;178605607 | chr2:179470336;179470335;179470334 |
| N2AB | 16255 | 48988;48989;48990 | chr2:178605609;178605608;178605607 | chr2:179470336;179470335;179470334 |
| N2A | 15328 | 46207;46208;46209 | chr2:178605609;178605608;178605607 | chr2:179470336;179470335;179470334 |
| N2B | 8831 | 26716;26717;26718 | chr2:178605609;178605608;178605607 | chr2:179470336;179470335;179470334 |
| Novex-1 | 8956 | 27091;27092;27093 | chr2:178605609;178605608;178605607 | chr2:179470336;179470335;179470334 |
| Novex-2 | 9023 | 27292;27293;27294 | chr2:178605609;178605608;178605607 | chr2:179470336;179470335;179470334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/V | None | None | 1.0 | D | 0.896 | 0.527 | 0.627645487632 | gnomAD-4.0.0 | 6.92538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.59471E-04 | 6.28729E-06 | 0 | 3.36768E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.729 | likely_pathogenic | 0.6935 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.482149794 | None | None | N |
| G/C | 0.9284 | likely_pathogenic | 0.9241 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/D | 0.9801 | likely_pathogenic | 0.9676 | pathogenic | -1.498 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/E | 0.9838 | likely_pathogenic | 0.9749 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.508134096 | None | None | N |
| G/F | 0.9923 | likely_pathogenic | 0.9918 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.9896 | likely_pathogenic | 0.9878 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/I | 0.9956 | likely_pathogenic | 0.9943 | pathogenic | 0.331 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/K | 0.9952 | likely_pathogenic | 0.9925 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/L | 0.9942 | likely_pathogenic | 0.9927 | pathogenic | 0.331 | Stabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/M | 0.9938 | likely_pathogenic | 0.9924 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/N | 0.9815 | likely_pathogenic | 0.9721 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.9865 | likely_pathogenic | 0.9806 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/R | 0.9884 | likely_pathogenic | 0.983 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.474223303 | None | None | N |
| G/S | 0.7957 | likely_pathogenic | 0.7333 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/T | 0.9727 | likely_pathogenic | 0.9575 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/V | 0.9883 | likely_pathogenic | 0.9848 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.896 | deleterious | D | 0.531209094 | None | None | N |
| G/W | 0.9862 | likely_pathogenic | 0.9831 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/Y | 0.9776 | likely_pathogenic | 0.9731 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.858 | 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.