Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26311 | 79156;79157;79158 | chr2:178567201;178567200;178567199 | chr2:179431928;179431927;179431926 |
| N2AB | 24670 | 74233;74234;74235 | chr2:178567201;178567200;178567199 | chr2:179431928;179431927;179431926 |
| N2A | 23743 | 71452;71453;71454 | chr2:178567201;178567200;178567199 | chr2:179431928;179431927;179431926 |
| N2B | 17246 | 51961;51962;51963 | chr2:178567201;178567200;178567199 | chr2:179431928;179431927;179431926 |
| Novex-1 | 17371 | 52336;52337;52338 | chr2:178567201;178567200;178567199 | chr2:179431928;179431927;179431926 |
| Novex-2 | 17438 | 52537;52538;52539 | chr2:178567201;178567200;178567199 | chr2:179431928;179431927;179431926 |
| 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 | D | 0.903 | 0.714 | 0.831421814805 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| P/S | rs888575364  |
-2.493 | 1.0 | N | 0.856 | 0.589 | 0.44307954383 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| P/S | rs888575364 |
-2.493 | 1.0 | N | 0.856 | 0.589 | 0.44307954383 | 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/S | rs888575364 |
-2.493 | 1.0 | N | 0.856 | 0.589 | 0.44307954383 | gnomAD-4.0.0 | 4.342E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93756E-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 | 0.8644 | likely_pathogenic | 0.8521 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.528668334 | None | None | N |
| P/C | 0.9825 | likely_pathogenic | 0.9801 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/E | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/G | 0.9905 | likely_pathogenic | 0.9891 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/H | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -2.165 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| P/I | 0.9919 | likely_pathogenic | 0.9902 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/L | 0.9713 | likely_pathogenic | 0.966 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.564116375 | None | None | N |
| P/M | 0.9963 | likely_pathogenic | 0.9957 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| P/N | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/Q | 0.9964 | likely_pathogenic | 0.9959 | pathogenic | -1.803 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.554369912 | None | None | N |
| P/R | 0.9955 | likely_pathogenic | 0.9947 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.527782961 | None | None | N |
| P/S | 0.9747 | likely_pathogenic | 0.972 | pathogenic | -2.276 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.506525154 | None | None | N |
| P/T | 0.9792 | likely_pathogenic | 0.974 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.533036427 | None | None | N |
| P/V | 0.9697 | likely_pathogenic | 0.964 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.901 | 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.