Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18808 | 56647;56648;56649 | chr2:178599371;178599370;178599369 | chr2:179464098;179464097;179464096 |
| N2AB | 17167 | 51724;51725;51726 | chr2:178599371;178599370;178599369 | chr2:179464098;179464097;179464096 |
| N2A | 16240 | 48943;48944;48945 | chr2:178599371;178599370;178599369 | chr2:179464098;179464097;179464096 |
| N2B | 9743 | 29452;29453;29454 | chr2:178599371;178599370;178599369 | chr2:179464098;179464097;179464096 |
| Novex-1 | 9868 | 29827;29828;29829 | chr2:178599371;178599370;178599369 | chr2:179464098;179464097;179464096 |
| Novex-2 | 9935 | 30028;30029;30030 | chr2:178599371;178599370;178599369 | chr2:179464098;179464097;179464096 |
| 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 | rs2052664825  |
None | 1.0 | N | 0.886 | 0.5 | 0.655917873618 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs2052664825 |
None | 1.0 | N | 0.886 | 0.5 | 0.655917873618 | gnomAD-4.0.0 | 8.12491E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.02117E-05 | 0 | 1.61561E-05 |
| P/S | rs139748528 |
-2.184 | 1.0 | N | 0.857 | 0.457 | None | gnomAD-2.1.1 | 1.72E-05 | None | None | None | None | N | None | 1.31874E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.33E-06 | 1.78063E-04 |
| P/S | rs139748528 |
-2.184 | 1.0 | N | 0.857 | 0.457 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs139748528 |
-2.184 | 1.0 | N | 0.857 | 0.457 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 1.5E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/S | rs139748528 |
-2.184 | 1.0 | N | 0.857 | 0.457 | None | gnomAD-4.0.0 | 8.12465E-06 | None | None | None | None | N | None | 1.34485E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70206E-06 | 0 | 1.61504E-05 |
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 | 0.1238 | likely_benign | 0.1045 | benign | -1.71 | Destabilizing | 1.0 | D | 0.811 | deleterious | N | 0.496415593 | None | None | N |
| P/C | 0.6089 | likely_pathogenic | 0.5418 | ambiguous | -1.065 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/D | 0.8329 | likely_pathogenic | 0.7668 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/E | 0.4803 | ambiguous | 0.3867 | ambiguous | -1.88 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/F | 0.7083 | likely_pathogenic | 0.6103 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/G | 0.6731 | likely_pathogenic | 0.5739 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/H | 0.3721 | ambiguous | 0.3083 | benign | -1.458 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/I | 0.4063 | ambiguous | 0.3356 | benign | -0.741 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/K | 0.4777 | ambiguous | 0.3869 | ambiguous | -1.454 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/L | 0.1772 | likely_benign | 0.1379 | benign | -0.741 | Destabilizing | 1.0 | D | 0.886 | deleterious | N | 0.502179833 | None | None | N |
| P/M | 0.4494 | ambiguous | 0.3796 | ambiguous | -0.668 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/N | 0.7311 | likely_pathogenic | 0.647 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/Q | 0.2626 | likely_benign | 0.2195 | benign | -1.538 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.481201969 | None | None | N |
| P/R | 0.3251 | likely_benign | 0.2554 | benign | -1.023 | Destabilizing | 1.0 | D | 0.897 | deleterious | N | 0.483822089 | None | None | N |
| P/S | 0.2821 | likely_benign | 0.2166 | benign | -1.967 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.487518619 | None | None | N |
| P/T | 0.2566 | likely_benign | 0.2028 | benign | -1.742 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.493861721 | None | None | N |
| P/V | 0.3024 | likely_benign | 0.2416 | benign | -1.036 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/W | 0.8512 | likely_pathogenic | 0.7946 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/Y | 0.6965 | likely_pathogenic | 0.5981 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.881 | 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.