Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16432 | 49519;49520;49521 | chr2:178614103;178614102;178614101 | chr2:179478830;179478829;179478828 |
| N2AB | 14791 | 44596;44597;44598 | chr2:178614103;178614102;178614101 | chr2:179478830;179478829;179478828 |
| N2A | 13864 | 41815;41816;41817 | chr2:178614103;178614102;178614101 | chr2:179478830;179478829;179478828 |
| N2B | 7367 | 22324;22325;22326 | chr2:178614103;178614102;178614101 | chr2:179478830;179478829;179478828 |
| Novex-1 | 7492 | 22699;22700;22701 | chr2:178614103;178614102;178614101 | chr2:179478830;179478829;179478828 |
| Novex-2 | 7559 | 22900;22901;22902 | chr2:178614103;178614102;178614101 | chr2:179478830;179478829;179478828 |
| 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/D | rs547225882  |
-0.566 | 1.0 | D | 0.924 | 0.642 | 0.556224665151 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs547225882 |
-0.566 | 1.0 | D | 0.924 | 0.642 | 0.556224665151 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| G/D | rs547225882 |
-0.566 | 1.0 | D | 0.924 | 0.642 | 0.556224665151 | gnomAD-4.0.0 | 2.5662E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79246E-06 | 0 | 0 |
| G/R | rs760530855 |
-0.46 | 1.0 | D | 0.927 | 0.65 | 0.760648692554 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | rs760530855 |
-0.46 | 1.0 | D | 0.927 | 0.65 | 0.760648692554 | gnomAD-4.0.0 | 3.18792E-06 | None | None | None | None | I | None | 5.67279E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86197E-06 | 0 | 0 |
| G/S | rs760530855 |
-0.771 | 1.0 | D | 0.857 | 0.651 | 0.505335117028 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/S | rs760530855 |
-0.771 | 1.0 | D | 0.857 | 0.651 | 0.505335117028 | gnomAD-4.0.0 | 9.56376E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71718E-05 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.905 | 0.646 | 0.726009917099 | gnomAD-4.0.0 | 1.59393E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.79376E-05 | 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 | 0.9503 | likely_pathogenic | 0.9253 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.819755277 | None | None | I |
| G/C | 0.985 | likely_pathogenic | 0.9728 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.823951942 | None | None | I |
| G/D | 0.991 | likely_pathogenic | 0.9832 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.924 | deleterious | D | 0.736203213 | None | None | I |
| G/E | 0.9961 | likely_pathogenic | 0.9922 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/F | 0.9975 | likely_pathogenic | 0.9958 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/H | 0.9972 | likely_pathogenic | 0.9945 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/I | 0.9977 | likely_pathogenic | 0.9958 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| G/K | 0.9975 | likely_pathogenic | 0.9952 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/L | 0.996 | likely_pathogenic | 0.9934 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9968 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/N | 0.9948 | likely_pathogenic | 0.9898 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/Q | 0.9949 | likely_pathogenic | 0.9898 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/R | 0.9915 | likely_pathogenic | 0.9841 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.790533683 | None | None | I |
| G/S | 0.9296 | likely_pathogenic | 0.8711 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.754993919 | None | None | I |
| G/T | 0.9901 | likely_pathogenic | 0.981 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/V | 0.9953 | likely_pathogenic | 0.9914 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.726132119 | None | None | I |
| G/W | 0.9962 | likely_pathogenic | 0.9935 | pathogenic | -1.345 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/Y | 0.9971 | likely_pathogenic | 0.9944 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.907 | 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.