Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27644 | 83155;83156;83157 | chr2:178563202;178563201;178563200 | chr2:179427929;179427928;179427927 |
| N2AB | 26003 | 78232;78233;78234 | chr2:178563202;178563201;178563200 | chr2:179427929;179427928;179427927 |
| N2A | 25076 | 75451;75452;75453 | chr2:178563202;178563201;178563200 | chr2:179427929;179427928;179427927 |
| N2B | 18579 | 55960;55961;55962 | chr2:178563202;178563201;178563200 | chr2:179427929;179427928;179427927 |
| Novex-1 | 18704 | 56335;56336;56337 | chr2:178563202;178563201;178563200 | chr2:179427929;179427928;179427927 |
| Novex-2 | 18771 | 56536;56537;56538 | chr2:178563202;178563201;178563200 | chr2:179427929;179427928;179427927 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1166436364  |
-1.29 | 0.999 | N | 0.69 | 0.536 | 0.46614307118 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| F/L | rs1166436364 |
-1.29 | 0.999 | N | 0.69 | 0.536 | 0.46614307118 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79903E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9879 | likely_pathogenic | 0.9779 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/C | 0.9083 | likely_pathogenic | 0.8357 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.534793946 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -3.532 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/E | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/G | 0.9955 | likely_pathogenic | 0.9925 | pathogenic | -2.829 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/H | 0.995 | likely_pathogenic | 0.9929 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/I | 0.4917 | ambiguous | 0.3735 | ambiguous | -0.927 | Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.480994024 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.347 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/L | 0.9338 | likely_pathogenic | 0.8882 | pathogenic | -0.927 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | N | 0.485388571 | None | None | N |
| F/M | 0.8625 | likely_pathogenic | 0.7887 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| F/N | 0.9984 | likely_pathogenic | 0.9978 | pathogenic | -3.101 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/P | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.9982 | pathogenic | -2.856 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/R | 0.9979 | likely_pathogenic | 0.9972 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/S | 0.9952 | likely_pathogenic | 0.9918 | pathogenic | -3.468 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.557506557 | None | None | N |
| F/T | 0.9912 | likely_pathogenic | 0.9846 | pathogenic | -3.105 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/V | 0.595 | likely_pathogenic | 0.4567 | ambiguous | -1.428 | Destabilizing | 1.0 | D | 0.78 | deleterious | N | 0.486737561 | None | None | N |
| F/W | 0.9473 | likely_pathogenic | 0.9341 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| F/Y | 0.6989 | likely_pathogenic | 0.6779 | pathogenic | -0.843 | Destabilizing | 0.999 | D | 0.605 | neutral | N | 0.510649303 | 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.