Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25769 | 77530;77531;77532 | chr2:178568827;178568826;178568825 | chr2:179433554;179433553;179433552 |
| N2AB | 24128 | 72607;72608;72609 | chr2:178568827;178568826;178568825 | chr2:179433554;179433553;179433552 |
| N2A | 23201 | 69826;69827;69828 | chr2:178568827;178568826;178568825 | chr2:179433554;179433553;179433552 |
| N2B | 16704 | 50335;50336;50337 | chr2:178568827;178568826;178568825 | chr2:179433554;179433553;179433552 |
| Novex-1 | 16829 | 50710;50711;50712 | chr2:178568827;178568826;178568825 | chr2:179433554;179433553;179433552 |
| Novex-2 | 16896 | 50911;50912;50913 | chr2:178568827;178568826;178568825 | chr2:179433554;179433553;179433552 |
| 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 | rs778877994  |
-1.16 | 1.0 | N | 0.684 | 0.547 | 0.441949972293 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 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 | 0.9962 | likely_pathogenic | 0.9968 | pathogenic | -2.485 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| F/C | 0.9751 | likely_pathogenic | 0.981 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.545656499 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.609 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.38 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| F/G | 0.9975 | likely_pathogenic | 0.998 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/H | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/I | 0.91 | likely_pathogenic | 0.917 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.48362737 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.466 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| F/L | 0.9833 | likely_pathogenic | 0.9866 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.504315746 | None | None | N |
| F/M | 0.9738 | likely_pathogenic | 0.9753 | pathogenic | -0.845 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| F/N | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -3.219 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/Q | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -2.963 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/R | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| F/S | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -3.54 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.557177388 | None | None | N |
| F/T | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -3.187 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| F/V | 0.9257 | likely_pathogenic | 0.9343 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.476533345 | None | None | N |
| F/W | 0.9664 | likely_pathogenic | 0.9656 | pathogenic | -0.67 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| F/Y | 0.8239 | likely_pathogenic | 0.8268 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.605 | neutral | N | 0.512459729 | 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.