Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22920 | 68983;68984;68985 | chr2:178577668;178577667;178577666 | chr2:179442395;179442394;179442393 |
| N2AB | 21279 | 64060;64061;64062 | chr2:178577668;178577667;178577666 | chr2:179442395;179442394;179442393 |
| N2A | 20352 | 61279;61280;61281 | chr2:178577668;178577667;178577666 | chr2:179442395;179442394;179442393 |
| N2B | 13855 | 41788;41789;41790 | chr2:178577668;178577667;178577666 | chr2:179442395;179442394;179442393 |
| Novex-1 | 13980 | 42163;42164;42165 | chr2:178577668;178577667;178577666 | chr2:179442395;179442394;179442393 |
| Novex-2 | 14047 | 42364;42365;42366 | chr2:178577668;178577667;178577666 | chr2:179442395;179442394;179442393 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs1438744287  |
0.303 | 1.0 | D | 0.761 | 0.565 | 0.177238962908 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs1438744287 |
0.303 | 1.0 | D | 0.761 | 0.565 | 0.177238962908 | gnomAD-4.0.0 | 6.84451E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.82966E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | None | None | 0.999 | N | 0.612 | 0.581 | 0.295623431141 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| N/C | 0.9838 | likely_pathogenic | 0.9883 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/D | 0.9826 | likely_pathogenic | 0.9889 | pathogenic | -2.265 | Highly Destabilizing | 0.999 | D | 0.619 | neutral | D | 0.526969586 | None | None | N |
| N/E | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -2.092 | Highly Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.187 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| N/G | 0.9927 | likely_pathogenic | 0.995 | pathogenic | -0.473 | Destabilizing | 0.999 | D | 0.593 | neutral | None | None | None | None | N |
| N/H | 0.9865 | likely_pathogenic | 0.9907 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.569725463 | None | None | N |
| N/I | 0.994 | likely_pathogenic | 0.9957 | pathogenic | 0.586 | Stabilizing | 1.0 | D | 0.805 | deleterious | D | 0.569978952 | None | None | N |
| N/K | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.761 | deleterious | D | 0.568711504 | None | None | N |
| N/L | 0.9901 | likely_pathogenic | 0.9922 | pathogenic | 0.586 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/M | 0.9927 | likely_pathogenic | 0.9944 | pathogenic | 0.701 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| N/P | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | 0.363 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| N/Q | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/R | 0.9982 | likely_pathogenic | 0.9988 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/S | 0.9339 | likely_pathogenic | 0.9517 | pathogenic | -0.798 | Destabilizing | 0.999 | D | 0.612 | neutral | N | 0.521347272 | None | None | N |
| N/T | 0.9628 | likely_pathogenic | 0.9731 | pathogenic | -0.486 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.508278992 | None | None | N |
| N/V | 0.9921 | likely_pathogenic | 0.9944 | pathogenic | 0.363 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| N/Y | 0.9918 | likely_pathogenic | 0.9949 | pathogenic | 0.162 | Stabilizing | 1.0 | D | 0.817 | deleterious | D | 0.558369157 | 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.