Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28136 | 84631;84632;84633 | chr2:178561726;178561725;178561724 | chr2:179426453;179426452;179426451 |
| N2AB | 26495 | 79708;79709;79710 | chr2:178561726;178561725;178561724 | chr2:179426453;179426452;179426451 |
| N2A | 25568 | 76927;76928;76929 | chr2:178561726;178561725;178561724 | chr2:179426453;179426452;179426451 |
| N2B | 19071 | 57436;57437;57438 | chr2:178561726;178561725;178561724 | chr2:179426453;179426452;179426451 |
| Novex-1 | 19196 | 57811;57812;57813 | chr2:178561726;178561725;178561724 | chr2:179426453;179426452;179426451 |
| Novex-2 | 19263 | 58012;58013;58014 | chr2:178561726;178561725;178561724 | chr2:179426453;179426452;179426451 |
| 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/R | rs879234686  |
-0.519 | 0.652 | D | 0.671 | 0.582 | 0.655169154632 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs879234686 |
-0.519 | 0.652 | D | 0.671 | 0.582 | 0.655169154632 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs879234686 |
-0.519 | 0.652 | D | 0.671 | 0.582 | 0.655169154632 | gnomAD-4.0.0 | 1.31427E-05 | None | None | None | None | I | None | 4.82486E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8818 | likely_pathogenic | 0.9101 | pathogenic | -0.821 | Destabilizing | 0.991 | D | 0.685 | prob.neutral | D | 0.563119325 | None | None | I |
| G/C | 0.9318 | likely_pathogenic | 0.9494 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/D | 0.9686 | likely_pathogenic | 0.9789 | pathogenic | -1.177 | Destabilizing | 0.999 | D | 0.895 | deleterious | None | None | None | None | I |
| G/E | 0.972 | likely_pathogenic | 0.9816 | pathogenic | -1.295 | Destabilizing | 0.997 | D | 0.897 | deleterious | D | 0.575147193 | None | None | I |
| G/F | 0.9889 | likely_pathogenic | 0.9929 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/H | 0.982 | likely_pathogenic | 0.9875 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/I | 0.9914 | likely_pathogenic | 0.994 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/K | 0.9822 | likely_pathogenic | 0.9874 | pathogenic | -1.253 | Destabilizing | 0.996 | D | 0.891 | deleterious | None | None | None | None | I |
| G/L | 0.9856 | likely_pathogenic | 0.9886 | pathogenic | -0.688 | Destabilizing | 0.998 | D | 0.883 | deleterious | None | None | None | None | I |
| G/M | 0.9927 | likely_pathogenic | 0.9955 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/N | 0.9749 | likely_pathogenic | 0.9823 | pathogenic | -0.88 | Destabilizing | 0.998 | D | 0.852 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/Q | 0.9583 | likely_pathogenic | 0.9705 | pathogenic | -1.183 | Destabilizing | 0.998 | D | 0.9 | deleterious | None | None | None | None | I |
| G/R | 0.9325 | likely_pathogenic | 0.9536 | pathogenic | -0.761 | Destabilizing | 0.652 | D | 0.671 | neutral | D | 0.557042938 | None | None | I |
| G/S | 0.7219 | likely_pathogenic | 0.7908 | pathogenic | -1.089 | Destabilizing | 0.998 | D | 0.859 | deleterious | None | None | None | None | I |
| G/T | 0.9664 | likely_pathogenic | 0.9765 | pathogenic | -1.143 | Destabilizing | 0.998 | D | 0.898 | deleterious | None | None | None | None | I |
| G/V | 0.983 | likely_pathogenic | 0.988 | pathogenic | -0.696 | Destabilizing | 0.999 | D | 0.873 | deleterious | D | 0.556535959 | None | None | I |
| G/W | 0.974 | likely_pathogenic | 0.9825 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Y | 0.9837 | likely_pathogenic | 0.9888 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.896 | 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.