Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31107 | 93544;93545;93546 | chr2:178548307;178548306;178548305 | chr2:179413034;179413033;179413032 |
| N2AB | 29466 | 88621;88622;88623 | chr2:178548307;178548306;178548305 | chr2:179413034;179413033;179413032 |
| N2A | 28539 | 85840;85841;85842 | chr2:178548307;178548306;178548305 | chr2:179413034;179413033;179413032 |
| N2B | 22042 | 66349;66350;66351 | chr2:178548307;178548306;178548305 | chr2:179413034;179413033;179413032 |
| Novex-1 | 22167 | 66724;66725;66726 | chr2:178548307;178548306;178548305 | chr2:179413034;179413033;179413032 |
| Novex-2 | 22234 | 66925;66926;66927 | chr2:178548307;178548306;178548305 | chr2:179413034;179413033;179413032 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | N | 0.896 | 0.411 | 0.71635906325 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | None | None | 1.0 | N | 0.892 | 0.395 | 0.568214726415 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| P/S | None | None | 1.0 | N | 0.872 | 0.275 | 0.259272394797 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0862 | likely_benign | 0.0985 | benign | -1.307 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.457598127 | None | None | N |
| P/C | 0.6816 | likely_pathogenic | 0.7152 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/D | 0.931 | likely_pathogenic | 0.9297 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| P/E | 0.8072 | likely_pathogenic | 0.7965 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/F | 0.8998 | likely_pathogenic | 0.8947 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/G | 0.4484 | ambiguous | 0.5127 | ambiguous | -1.612 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/H | 0.732 | likely_pathogenic | 0.734 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| P/I | 0.7556 | likely_pathogenic | 0.7256 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/K | 0.8869 | likely_pathogenic | 0.8685 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/L | 0.5058 | ambiguous | 0.469 | ambiguous | -0.57 | Destabilizing | 1.0 | D | 0.896 | deleterious | N | 0.480640586 | None | None | N |
| P/M | 0.6421 | likely_pathogenic | 0.6473 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/N | 0.7929 | likely_pathogenic | 0.8055 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/Q | 0.6096 | likely_pathogenic | 0.617 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.892 | deleterious | N | 0.516395024 | None | None | N |
| P/R | 0.782 | likely_pathogenic | 0.7526 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.926 | deleterious | N | 0.493771318 | None | None | N |
| P/S | 0.2903 | likely_benign | 0.3282 | benign | -1.287 | Destabilizing | 1.0 | D | 0.872 | deleterious | N | 0.469471347 | None | None | N |
| P/T | 0.338 | likely_benign | 0.3366 | benign | -1.183 | Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.481147565 | None | None | N |
| P/V | 0.5252 | ambiguous | 0.4966 | ambiguous | -0.782 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/W | 0.9611 | likely_pathogenic | 0.9547 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| P/Y | 0.8874 | likely_pathogenic | 0.8865 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.904 | 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.