Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31193 | 93802;93803;93804 | chr2:178548049;178548048;178548047 | chr2:179412776;179412775;179412774 |
| N2AB | 29552 | 88879;88880;88881 | chr2:178548049;178548048;178548047 | chr2:179412776;179412775;179412774 |
| N2A | 28625 | 86098;86099;86100 | chr2:178548049;178548048;178548047 | chr2:179412776;179412775;179412774 |
| N2B | 22128 | 66607;66608;66609 | chr2:178548049;178548048;178548047 | chr2:179412776;179412775;179412774 |
| Novex-1 | 22253 | 66982;66983;66984 | chr2:178548049;178548048;178548047 | chr2:179412776;179412775;179412774 |
| Novex-2 | 22320 | 67183;67184;67185 | chr2:178548049;178548048;178548047 | chr2:179412776;179412775;179412774 |
| 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/C | None | None | 1.0 | D | 0.852 | 0.777 | 0.90338337766 | gnomAD-4.0.0 | 2.05252E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.87266E-05 | 0 | 1.79887E-06 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.901 | 0.765 | 0.619865016221 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85794E-06 | 0 | 0 |
| G/V | rs754246638  |
-0.398 | 1.0 | D | 0.869 | 0.778 | 0.926610485948 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/V | rs754246638 |
-0.398 | 1.0 | D | 0.869 | 0.778 | 0.926610485948 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85794E-06 | 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 | 0.8211 | likely_pathogenic | 0.7737 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.552010645 | None | None | I |
| G/C | 0.9562 | likely_pathogenic | 0.9282 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.564634398 | None | None | I |
| G/D | 0.9741 | likely_pathogenic | 0.9541 | pathogenic | -1.369 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.526651461 | None | None | I |
| G/E | 0.986 | likely_pathogenic | 0.9749 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/F | 0.992 | likely_pathogenic | 0.9878 | pathogenic | -1.335 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/H | 0.9928 | likely_pathogenic | 0.9876 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/I | 0.9914 | likely_pathogenic | 0.9853 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/K | 0.992 | likely_pathogenic | 0.9876 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/L | 0.9878 | likely_pathogenic | 0.9821 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/M | 0.9934 | likely_pathogenic | 0.9898 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.9787 | likely_pathogenic | 0.9652 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Q | 0.9852 | likely_pathogenic | 0.9756 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/R | 0.977 | likely_pathogenic | 0.9618 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.545516184 | None | None | I |
| G/S | 0.7761 | likely_pathogenic | 0.6771 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.551503665 | None | None | I |
| G/T | 0.9623 | likely_pathogenic | 0.9376 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/V | 0.9801 | likely_pathogenic | 0.968 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.531780022 | None | None | I |
| G/W | 0.9913 | likely_pathogenic | 0.984 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/Y | 0.9899 | likely_pathogenic | 0.984 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.872 | 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.