Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29573 | 88942;88943;88944 | chr2:178554630;178554629;178554628 | chr2:179419357;179419356;179419355 |
| N2AB | 27932 | 84019;84020;84021 | chr2:178554630;178554629;178554628 | chr2:179419357;179419356;179419355 |
| N2A | 27005 | 81238;81239;81240 | chr2:178554630;178554629;178554628 | chr2:179419357;179419356;179419355 |
| N2B | 20508 | 61747;61748;61749 | chr2:178554630;178554629;178554628 | chr2:179419357;179419356;179419355 |
| Novex-1 | 20633 | 62122;62123;62124 | chr2:178554630;178554629;178554628 | chr2:179419357;179419356;179419355 |
| Novex-2 | 20700 | 62323;62324;62325 | chr2:178554630;178554629;178554628 | chr2:179419357;179419356;179419355 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs951559577  |
-1.708 | 1.0 | N | 0.828 | 0.416 | 0.259761712551 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs951559577 |
-1.708 | 1.0 | N | 0.828 | 0.416 | 0.259761712551 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs951559577 |
-1.708 | 1.0 | N | 0.828 | 0.416 | 0.259761712551 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 2.28624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs1332479278 |
-1.332 | 1.0 | N | 0.812 | 0.422 | 0.36893422563 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs1332479278 |
-1.332 | 1.0 | N | 0.812 | 0.422 | 0.36893422563 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs1332479278 |
-1.332 | 1.0 | N | 0.812 | 0.422 | 0.36893422563 | gnomAD-4.0.0 | 1.85903E-06 | None | None | None | None | N | None | 1.33518E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47564E-07 | 1.09801E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9888 | likely_pathogenic | 0.9913 | pathogenic | -1.402 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| K/C | 0.9705 | likely_pathogenic | 0.9747 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| K/D | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| K/E | 0.9793 | likely_pathogenic | 0.9829 | pathogenic | -1.351 | Destabilizing | 0.999 | D | 0.739 | prob.delet. | N | 0.518782242 | None | None | N |
| K/F | 0.9945 | likely_pathogenic | 0.9957 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| K/G | 0.9904 | likely_pathogenic | 0.9922 | pathogenic | -1.907 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| K/H | 0.8919 | likely_pathogenic | 0.9039 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| K/I | 0.9743 | likely_pathogenic | 0.9792 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| K/L | 0.9554 | likely_pathogenic | 0.9643 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| K/M | 0.8899 | likely_pathogenic | 0.9114 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.524252768 | None | None | N |
| K/N | 0.9932 | likely_pathogenic | 0.9946 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.828 | deleterious | N | 0.507425937 | None | None | N |
| K/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| K/Q | 0.8027 | likely_pathogenic | 0.8264 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.47533203 | None | None | N |
| K/R | 0.1679 | likely_benign | 0.1828 | benign | -0.773 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.458278492 | None | None | N |
| K/S | 0.9929 | likely_pathogenic | 0.9943 | pathogenic | -2.233 | Highly Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| K/T | 0.9707 | likely_pathogenic | 0.9759 | pathogenic | -1.644 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.485585472 | None | None | N |
| K/V | 0.9657 | likely_pathogenic | 0.9715 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| K/W | 0.9864 | likely_pathogenic | 0.9892 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| K/Y | 0.9699 | likely_pathogenic | 0.9746 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.868 | 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.