Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26072 | 78439;78440;78441 | chr2:178567918;178567917;178567916 | chr2:179432645;179432644;179432643 |
| N2AB | 24431 | 73516;73517;73518 | chr2:178567918;178567917;178567916 | chr2:179432645;179432644;179432643 |
| N2A | 23504 | 70735;70736;70737 | chr2:178567918;178567917;178567916 | chr2:179432645;179432644;179432643 |
| N2B | 17007 | 51244;51245;51246 | chr2:178567918;178567917;178567916 | chr2:179432645;179432644;179432643 |
| Novex-1 | 17132 | 51619;51620;51621 | chr2:178567918;178567917;178567916 | chr2:179432645;179432644;179432643 |
| Novex-2 | 17199 | 51820;51821;51822 | chr2:178567918;178567917;178567916 | chr2:179432645;179432644;179432643 |
| 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/A | rs773200867  |
None | 0.991 | D | 0.679 | 0.738 | 0.54294064856 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs773200867 |
None | 0.991 | D | 0.679 | 0.738 | 0.54294064856 | gnomAD-4.0.0 | 8.97072E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.69763E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/C | rs762807103 |
-0.884 | 0.777 | D | 0.711 | 0.644 | 0.724435907192 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 0 | 5.66E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.82E-06 | 0 |
| G/C | rs762807103 |
-0.884 | 0.777 | D | 0.711 | 0.644 | 0.724435907192 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/C | rs762807103 |
-0.884 | 0.777 | D | 0.711 | 0.644 | 0.724435907192 | gnomAD-4.0.0 | 3.84468E-06 | None | None | None | None | I | None | 0 | 1.69549E-05 | None | 0 | 0 | None | 0 | 0 | 4.78813E-06 | 0 | 0 |
| G/D | None | -1.375 | 1.0 | D | 0.887 | 0.751 | 0.592138549 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/D | None | -1.375 | 1.0 | D | 0.887 | 0.751 | 0.592138549 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs762807103 |
-0.665 | 1.0 | D | 0.877 | 0.804 | 0.741345419295 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs762807103 |
-0.665 | 1.0 | D | 0.877 | 0.804 | 0.741345419295 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-05 | 0 |
| G/V | rs773200867 |
-0.482 | 0.999 | D | 0.881 | 0.75 | 0.770907746352 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs773200867 |
-0.482 | 0.999 | D | 0.881 | 0.75 | 0.770907746352 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43283E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.833 | likely_pathogenic | 0.8861 | pathogenic | -0.702 | Destabilizing | 0.991 | D | 0.679 | prob.neutral | D | 0.572419077 | None | None | I |
| G/C | 0.9405 | likely_pathogenic | 0.9647 | pathogenic | -1.035 | Destabilizing | 0.777 | D | 0.711 | prob.delet. | D | 0.572672567 | None | None | I |
| G/D | 0.9716 | likely_pathogenic | 0.9859 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.554314822 | None | None | I |
| G/E | 0.9874 | likely_pathogenic | 0.9938 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.9963 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/H | 0.9882 | likely_pathogenic | 0.9936 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/I | 0.9942 | likely_pathogenic | 0.9965 | pathogenic | -0.63 | Destabilizing | 0.999 | D | 0.876 | deleterious | None | None | None | None | I |
| G/K | 0.9871 | likely_pathogenic | 0.9929 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/L | 0.9899 | likely_pathogenic | 0.9938 | pathogenic | -0.63 | Destabilizing | 0.998 | D | 0.883 | deleterious | None | None | None | None | I |
| G/M | 0.994 | likely_pathogenic | 0.9965 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/N | 0.9738 | likely_pathogenic | 0.9862 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Q | 0.9836 | likely_pathogenic | 0.9912 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/R | 0.9691 | likely_pathogenic | 0.9822 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.561316262 | None | None | I |
| G/S | 0.7685 | likely_pathogenic | 0.8477 | pathogenic | -1.13 | Destabilizing | 0.999 | D | 0.839 | deleterious | D | 0.561062772 | None | None | I |
| G/T | 0.9495 | likely_pathogenic | 0.9699 | pathogenic | -1.2 | Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | I |
| G/V | 0.9855 | likely_pathogenic | 0.991 | pathogenic | -0.617 | Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.572672567 | None | None | I |
| G/W | 0.99 | likely_pathogenic | 0.9939 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Y | 0.9906 | likely_pathogenic | 0.9946 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | 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.