Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16515 | 49768;49769;49770 | chr2:178613266;178613265;178613264 | chr2:179477993;179477992;179477991 |
| N2AB | 14874 | 44845;44846;44847 | chr2:178613266;178613265;178613264 | chr2:179477993;179477992;179477991 |
| N2A | 13947 | 42064;42065;42066 | chr2:178613266;178613265;178613264 | chr2:179477993;179477992;179477991 |
| N2B | 7450 | 22573;22574;22575 | chr2:178613266;178613265;178613264 | chr2:179477993;179477992;179477991 |
| Novex-1 | 7575 | 22948;22949;22950 | chr2:178613266;178613265;178613264 | chr2:179477993;179477992;179477991 |
| Novex-2 | 7642 | 23149;23150;23151 | chr2:178613266;178613265;178613264 | chr2:179477993;179477992;179477991 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 1.0 | D | 0.849 | 0.887 | 0.922985331647 | gnomAD-4.0.0 | 1.20052E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31273E-06 | 0 | 0 |
| L/V | rs1351046328  |
-2.014 | 0.999 | D | 0.825 | 0.674 | 0.879728590522 | gnomAD-2.1.1 | 4.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.42E-05 | None | 0 | 0 | 0 |
| L/V | rs1351046328 |
-2.014 | 0.999 | D | 0.825 | 0.674 | 0.879728590522 | gnomAD-4.0.0 | 1.60255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46186E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9841 | likely_pathogenic | 0.9772 | pathogenic | -2.516 | Highly Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| L/C | 0.9755 | likely_pathogenic | 0.9515 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| L/D | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.045 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/E | 0.9982 | likely_pathogenic | 0.9981 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/F | 0.9267 | likely_pathogenic | 0.9023 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.814733445 | None | None | N |
| L/G | 0.9954 | likely_pathogenic | 0.9937 | pathogenic | -2.994 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/H | 0.9965 | likely_pathogenic | 0.9955 | pathogenic | -2.106 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.813463379 | None | None | N |
| L/I | 0.6125 | likely_pathogenic | 0.4974 | ambiguous | -1.184 | Destabilizing | 0.999 | D | 0.82 | deleterious | D | 0.719692842 | None | None | N |
| L/K | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -1.866 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| L/M | 0.6511 | likely_pathogenic | 0.5941 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| L/N | 0.9963 | likely_pathogenic | 0.9954 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| L/P | 0.9979 | likely_pathogenic | 0.9968 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.813463379 | None | None | N |
| L/Q | 0.9927 | likely_pathogenic | 0.9916 | pathogenic | -1.945 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| L/R | 0.9932 | likely_pathogenic | 0.9927 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.813463379 | None | None | N |
| L/S | 0.9979 | likely_pathogenic | 0.9974 | pathogenic | -2.713 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/T | 0.9877 | likely_pathogenic | 0.9863 | pathogenic | -2.432 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/V | 0.742 | likely_pathogenic | 0.6413 | pathogenic | -1.603 | Destabilizing | 0.999 | D | 0.825 | deleterious | D | 0.608072431 | None | None | N |
| L/W | 0.9947 | likely_pathogenic | 0.9932 | pathogenic | -1.788 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| L/Y | 0.9947 | likely_pathogenic | 0.9926 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.832 | 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.