Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17378 | 52357;52358;52359 | chr2:178608879;178608878;178608877 | chr2:179473606;179473605;179473604 |
| N2AB | 15737 | 47434;47435;47436 | chr2:178608879;178608878;178608877 | chr2:179473606;179473605;179473604 |
| N2A | 14810 | 44653;44654;44655 | chr2:178608879;178608878;178608877 | chr2:179473606;179473605;179473604 |
| N2B | 8313 | 25162;25163;25164 | chr2:178608879;178608878;178608877 | chr2:179473606;179473605;179473604 |
| Novex-1 | 8438 | 25537;25538;25539 | chr2:178608879;178608878;178608877 | chr2:179473606;179473605;179473604 |
| Novex-2 | 8505 | 25738;25739;25740 | chr2:178608879;178608878;178608877 | chr2:179473606;179473605;179473604 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs776588807  |
-0.362 | 0.999 | N | 0.579 | 0.535 | 0.375326005269 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| F/L | rs776588807 |
-0.362 | 0.999 | N | 0.579 | 0.535 | 0.375326005269 | gnomAD-4.0.0 | 6.85454E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99923E-07 | 0 | 0 |
| F/V | None | None | 1.0 | N | 0.789 | 0.509 | 0.69442342145 | gnomAD-4.0.0 | 6.85454E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99923E-07 | 0 | 0 |
| F/Y | rs2055574620 |
None | 0.999 | N | 0.601 | 0.386 | 0.505885190548 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/Y | rs2055574620 |
None | 0.999 | N | 0.601 | 0.386 | 0.505885190548 | gnomAD-4.0.0 | 2.03025E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.4101E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9125 | likely_pathogenic | 0.8802 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| F/C | 0.7517 | likely_pathogenic | 0.6838 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.895 | deleterious | N | 0.493201929 | None | None | I |
| F/D | 0.991 | likely_pathogenic | 0.9889 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| F/E | 0.9878 | likely_pathogenic | 0.9851 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| F/G | 0.9754 | likely_pathogenic | 0.9662 | pathogenic | -2.534 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| F/H | 0.9507 | likely_pathogenic | 0.9351 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| F/I | 0.5775 | likely_pathogenic | 0.4853 | ambiguous | -0.726 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.395787238 | None | None | I |
| F/K | 0.993 | likely_pathogenic | 0.9897 | pathogenic | -1.854 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| F/L | 0.943 | likely_pathogenic | 0.9294 | pathogenic | -0.726 | Destabilizing | 0.999 | D | 0.579 | neutral | N | 0.460606721 | None | None | I |
| F/M | 0.7563 | likely_pathogenic | 0.7041 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| F/N | 0.9722 | likely_pathogenic | 0.9661 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| F/P | 0.9803 | likely_pathogenic | 0.9802 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| F/Q | 0.9804 | likely_pathogenic | 0.9724 | pathogenic | -2.208 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| F/R | 0.9841 | likely_pathogenic | 0.9764 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| F/S | 0.9125 | likely_pathogenic | 0.8757 | pathogenic | -2.999 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | N | 0.476296763 | None | None | I |
| F/T | 0.8815 | likely_pathogenic | 0.8338 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| F/V | 0.5981 | likely_pathogenic | 0.5065 | ambiguous | -1.193 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.421218827 | None | None | I |
| F/W | 0.7724 | likely_pathogenic | 0.7442 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| F/Y | 0.5157 | ambiguous | 0.4591 | ambiguous | -0.323 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.493375287 | None | None | I |
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.