Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22923 | 68992;68993;68994 | chr2:178577659;178577658;178577657 | chr2:179442386;179442385;179442384 |
| N2AB | 21282 | 64069;64070;64071 | chr2:178577659;178577658;178577657 | chr2:179442386;179442385;179442384 |
| N2A | 20355 | 61288;61289;61290 | chr2:178577659;178577658;178577657 | chr2:179442386;179442385;179442384 |
| N2B | 13858 | 41797;41798;41799 | chr2:178577659;178577658;178577657 | chr2:179442386;179442385;179442384 |
| Novex-1 | 13983 | 42172;42173;42174 | chr2:178577659;178577658;178577657 | chr2:179442386;179442385;179442384 |
| Novex-2 | 14050 | 42373;42374;42375 | chr2:178577659;178577658;178577657 | chr2:179442386;179442385;179442384 |
| 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 | rs1206128467  |
-0.416 | 1.0 | D | 0.904 | 0.682 | 0.847737919493 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1206128467 |
-0.416 | 1.0 | D | 0.904 | 0.682 | 0.847737919493 | gnomAD-4.0.0 | 1.5928E-06 | None | None | None | None | N | None | 0 | 2.2876E-05 | 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 | 0.6287 | likely_pathogenic | 0.5946 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.56015681 | None | None | N |
| G/C | 0.7552 | likely_pathogenic | 0.7501 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.572780563 | None | None | N |
| G/D | 0.775 | likely_pathogenic | 0.7378 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.531456719 | None | None | N |
| G/E | 0.8508 | likely_pathogenic | 0.8263 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/F | 0.9487 | likely_pathogenic | 0.9456 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/H | 0.8972 | likely_pathogenic | 0.8873 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/I | 0.9454 | likely_pathogenic | 0.9351 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/K | 0.9299 | likely_pathogenic | 0.9216 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| G/L | 0.9028 | likely_pathogenic | 0.8948 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/M | 0.9186 | likely_pathogenic | 0.9151 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/N | 0.697 | likely_pathogenic | 0.6796 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/P | 0.9969 | likely_pathogenic | 0.9962 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/Q | 0.8249 | likely_pathogenic | 0.8178 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/R | 0.8655 | likely_pathogenic | 0.8502 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.554080424 | None | None | N |
| G/S | 0.4289 | ambiguous | 0.3827 | ambiguous | -0.744 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.548547016 | None | None | N |
| G/T | 0.7906 | likely_pathogenic | 0.751 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/V | 0.8857 | likely_pathogenic | 0.8639 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.522137875 | None | None | N |
| G/W | 0.922 | likely_pathogenic | 0.9237 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.9123 | likely_pathogenic | 0.9105 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.882 | 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.