Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35897 | 107914;107915;107916 | chr2:178527299;178527298;178527297 | chr2:179392026;179392025;179392024 |
| N2AB | 34256 | 102991;102992;102993 | chr2:178527299;178527298;178527297 | chr2:179392026;179392025;179392024 |
| N2A | 33329 | 100210;100211;100212 | chr2:178527299;178527298;178527297 | chr2:179392026;179392025;179392024 |
| N2B | 26832 | 80719;80720;80721 | chr2:178527299;178527298;178527297 | chr2:179392026;179392025;179392024 |
| Novex-1 | 26957 | 81094;81095;81096 | chr2:178527299;178527298;178527297 | chr2:179392026;179392025;179392024 |
| Novex-2 | 27024 | 81295;81296;81297 | chr2:178527299;178527298;178527297 | chr2:179392026;179392025;179392024 |
| 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 | rs1558956138  |
None | 1.0 | D | 0.901 | 0.698 | 0.745084277401 | gnomAD-4.0.0 | 1.64727E-06 | None | None | None | -0.723(OBSL1) -1.155(OBSCN) | N | None | 6.0154E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1270719592 |
None | 1.0 | D | 0.905 | 0.718 | 0.721568202884 | gnomAD-4.0.0 | 3.29856E-06 | None | None | None | -0.94(OBSL1) -1.055(OBSCN) | N | None | 0 | 0 | None | 0 | 5.59409E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6919 | likely_pathogenic | 0.63 | pathogenic | -1.474 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.577312674 | None | -0.394(OBSL1) -0.684(OBSCN) | N |
| P/C | 0.9838 | likely_pathogenic | 0.9776 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | -1.786(OBSL1) -1.725(OBSCN) | N |
| P/D | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -1.336 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | -1.517(OBSL1) -1.595(OBSCN) | N |
| P/E | 0.9918 | likely_pathogenic | 0.9879 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -1.664(OBSL1) -1.791(OBSCN) | N |
| P/F | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | -0.691(OBSL1) -0.962(OBSCN) | N |
| P/G | 0.9789 | likely_pathogenic | 0.9714 | pathogenic | -1.744 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.311(OBSL1) -0.553(OBSCN) | N |
| P/H | 0.9938 | likely_pathogenic | 0.9898 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.631315957 | None | -0.408(OBSL1) -0.675(OBSCN) | N |
| P/I | 0.9842 | likely_pathogenic | 0.9768 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | -0.723(OBSL1) -1.155(OBSCN) | N |
| P/K | 0.9945 | likely_pathogenic | 0.9912 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -1.617(OBSL1) -2.01(OBSCN) | N |
| P/L | 0.9381 | likely_pathogenic | 0.9126 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.631114152 | None | -0.723(OBSL1) -1.155(OBSCN) | N |
| P/M | 0.9924 | likely_pathogenic | 0.988 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -1.259(OBSL1) -1.354(OBSCN) | N |
| P/N | 0.997 | likely_pathogenic | 0.9953 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | -1.03(OBSL1) -1.256(OBSCN) | N |
| P/Q | 0.9836 | likely_pathogenic | 0.9744 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -1.246(OBSL1) -1.456(OBSCN) | N |
| P/R | 0.982 | likely_pathogenic | 0.973 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.631315957 | None | -1.57(OBSL1) -2.011(OBSCN) | N |
| P/S | 0.948 | likely_pathogenic | 0.9292 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.630912348 | None | -0.94(OBSL1) -1.055(OBSCN) | N |
| P/T | 0.954 | likely_pathogenic | 0.931 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.631114152 | None | -1.095(OBSL1) -1.263(OBSCN) | N |
| P/V | 0.9385 | likely_pathogenic | 0.9192 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | -0.601(OBSL1) -0.987(OBSCN) | N |
| P/W | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | -1.068(OBSL1) -1.259(OBSCN) | N |
| P/Y | 0.9985 | likely_pathogenic | 0.9974 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | -0.641(OBSL1) -0.943(OBSCN) | 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.