Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27546 | 82861;82862;82863 | chr2:178563496;178563495;178563494 | chr2:179428223;179428222;179428221 |
| N2AB | 25905 | 77938;77939;77940 | chr2:178563496;178563495;178563494 | chr2:179428223;179428222;179428221 |
| N2A | 24978 | 75157;75158;75159 | chr2:178563496;178563495;178563494 | chr2:179428223;179428222;179428221 |
| N2B | 18481 | 55666;55667;55668 | chr2:178563496;178563495;178563494 | chr2:179428223;179428222;179428221 |
| Novex-1 | 18606 | 56041;56042;56043 | chr2:178563496;178563495;178563494 | chr2:179428223;179428222;179428221 |
| Novex-2 | 18673 | 56242;56243;56244 | chr2:178563496;178563495;178563494 | chr2:179428223;179428222;179428221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | D | 0.627 | 0.648 | 0.622847267328 | gnomAD-4.0.0 | 1.59131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs748482268  |
-1.943 | 1.0 | D | 0.789 | 0.649 | 0.589192105058 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | rs748482268 |
-1.943 | 1.0 | D | 0.789 | 0.649 | 0.589192105058 | gnomAD-4.0.0 | 3.18254E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85832E-06 | 0 | 3.02444E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.814 | likely_pathogenic | 0.8417 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/D | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -2.961 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.577992166 | None | None | N |
| A/E | 0.9935 | likely_pathogenic | 0.9931 | pathogenic | -2.74 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/F | 0.9917 | likely_pathogenic | 0.9914 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/G | 0.5293 | ambiguous | 0.6026 | pathogenic | -2.054 | Highly Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.538870367 | None | None | N |
| A/H | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -2.052 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/I | 0.9777 | likely_pathogenic | 0.9804 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/K | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/L | 0.9128 | likely_pathogenic | 0.914 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/M | 0.9555 | likely_pathogenic | 0.9614 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/N | 0.9943 | likely_pathogenic | 0.9951 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| A/P | 0.9777 | likely_pathogenic | 0.9778 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.559887911 | None | None | N |
| A/Q | 0.9874 | likely_pathogenic | 0.9857 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/R | 0.9894 | likely_pathogenic | 0.986 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/S | 0.3569 | ambiguous | 0.4547 | ambiguous | -2.219 | Highly Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.519231948 | None | None | N |
| A/T | 0.781 | likely_pathogenic | 0.839 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.535917398 | None | None | N |
| A/V | 0.8403 | likely_pathogenic | 0.8648 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.557606505 | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.425 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/Y | 0.9964 | likely_pathogenic | 0.9961 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.879 | 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.