Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3274 | 10045;10046;10047 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
| N2AB | 3274 | 10045;10046;10047 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
| N2A | 3274 | 10045;10046;10047 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
| N2B | 3228 | 9907;9908;9909 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
| Novex-1 | 3228 | 9907;9908;9909 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
| Novex-2 | 3228 | 9907;9908;9909 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
| Novex-3 | 3274 | 10045;10046;10047 | chr2:178764695;178764694;178764693 | chr2:179629422;179629421;179629420 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs201696360  |
None | 0.999 | D | 0.581 | 0.837 | 0.565574550146 | gnomAD-4.0.0 | 3.42035E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49649E-06 | 0 | 0 |
| K/Q | rs201696360 |
-0.682 | 1.0 | D | 0.727 | 0.747 | 0.493896554345 | gnomAD-2.1.1 | 2.48E-05 | None | None | None | None | N | None | 0 | 1.69348E-04 | None | 0 | 0 | None | 0 | None | 0 | 7.77E-06 | 0 |
| K/Q | rs201696360 |
-0.682 | 1.0 | D | 0.727 | 0.747 | 0.493896554345 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30839E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/Q | rs201696360 |
-0.682 | 1.0 | D | 0.727 | 0.747 | 0.493896554345 | gnomAD-4.0.0 | 6.19573E-06 | None | None | None | None | N | None | 0 | 1.33311E-04 | None | 0 | 0 | None | 0 | 0 | 8.47449E-07 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9858 | likely_pathogenic | 0.9934 | pathogenic | -0.933 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| K/C | 0.99 | likely_pathogenic | 0.994 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| K/D | 0.9974 | likely_pathogenic | 0.9987 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| K/E | 0.9604 | likely_pathogenic | 0.9814 | pathogenic | -0.426 | Destabilizing | 0.999 | D | 0.581 | neutral | D | 0.771528287 | None | None | N |
| K/F | 0.9972 | likely_pathogenic | 0.9984 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| K/G | 0.99 | likely_pathogenic | 0.9954 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| K/H | 0.9118 | likely_pathogenic | 0.9388 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| K/I | 0.9841 | likely_pathogenic | 0.9905 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| K/L | 0.9643 | likely_pathogenic | 0.9769 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| K/M | 0.9447 | likely_pathogenic | 0.9682 | pathogenic | 0.076 | Stabilizing | 1.0 | D | 0.769 | deleterious | D | 0.771528287 | None | None | N |
| K/N | 0.9918 | likely_pathogenic | 0.9955 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.667022979 | None | None | N |
| K/P | 0.9984 | likely_pathogenic | 0.9992 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| K/Q | 0.8015 | likely_pathogenic | 0.8785 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.696918662 | None | None | N |
| K/R | 0.1971 | likely_benign | 0.23 | benign | -0.854 | Destabilizing | 0.999 | D | 0.614 | neutral | N | 0.513924123 | None | None | N |
| K/S | 0.9904 | likely_pathogenic | 0.9955 | pathogenic | -1.596 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| K/T | 0.9715 | likely_pathogenic | 0.9883 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.640136551 | None | None | N |
| K/V | 0.9756 | likely_pathogenic | 0.9843 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| K/W | 0.9935 | likely_pathogenic | 0.9969 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| K/Y | 0.9886 | likely_pathogenic | 0.9927 | pathogenic | -0.066 | Destabilizing | 1.0 | D | 0.844 | 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.