Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31651 | 95176;95177;95178 | chr2:178546380;178546379;178546378 | chr2:179411107;179411106;179411105 |
| N2AB | 30010 | 90253;90254;90255 | chr2:178546380;178546379;178546378 | chr2:179411107;179411106;179411105 |
| N2A | 29083 | 87472;87473;87474 | chr2:178546380;178546379;178546378 | chr2:179411107;179411106;179411105 |
| N2B | 22586 | 67981;67982;67983 | chr2:178546380;178546379;178546378 | chr2:179411107;179411106;179411105 |
| Novex-1 | 22711 | 68356;68357;68358 | chr2:178546380;178546379;178546378 | chr2:179411107;179411106;179411105 |
| Novex-2 | 22778 | 68557;68558;68559 | chr2:178546380;178546379;178546378 | chr2:179411107;179411106;179411105 |
| 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 | rs188002699  |
-0.4 | 1.0 | N | 0.707 | 0.498 | 0.32980341726 | 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/N | rs188002699 |
-0.4 | 1.0 | N | 0.707 | 0.498 | 0.32980341726 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/N | rs188002699 |
-0.4 | 1.0 | N | 0.707 | 0.498 | 0.32980341726 | gnomAD-4.0.0 | 6.5697E-06 | None | None | None | None | N | None | 2.40778E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.903 | likely_pathogenic | 0.8934 | pathogenic | -0.913 | Destabilizing | 0.999 | D | 0.678 | prob.neutral | None | None | None | None | N |
| K/C | 0.8813 | likely_pathogenic | 0.8947 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| K/D | 0.9862 | likely_pathogenic | 0.9849 | pathogenic | 0.24 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| K/E | 0.853 | likely_pathogenic | 0.8303 | pathogenic | 0.375 | Stabilizing | 0.999 | D | 0.561 | neutral | D | 0.529450077 | None | None | N |
| K/F | 0.9644 | likely_pathogenic | 0.9576 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| K/G | 0.9676 | likely_pathogenic | 0.9643 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| K/H | 0.6203 | likely_pathogenic | 0.6269 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| K/I | 0.8187 | likely_pathogenic | 0.8071 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.855 | deleterious | N | 0.51666174 | None | None | N |
| K/L | 0.7971 | likely_pathogenic | 0.7872 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| K/M | 0.7052 | likely_pathogenic | 0.6924 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/N | 0.9554 | likely_pathogenic | 0.9518 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.511092333 | None | None | N |
| K/P | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| K/Q | 0.5029 | ambiguous | 0.4741 | ambiguous | -0.438 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.505647829 | None | None | N |
| K/R | 0.0833 | likely_benign | 0.0838 | benign | -0.435 | Destabilizing | 0.999 | D | 0.56 | neutral | N | 0.495751084 | None | None | N |
| K/S | 0.9418 | likely_pathogenic | 0.9397 | pathogenic | -1.237 | Destabilizing | 0.999 | D | 0.618 | neutral | None | None | None | None | N |
| K/T | 0.8666 | likely_pathogenic | 0.8519 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.506065903 | None | None | N |
| K/V | 0.7425 | likely_pathogenic | 0.7388 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| K/W | 0.9306 | likely_pathogenic | 0.9266 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| K/Y | 0.8875 | likely_pathogenic | 0.8762 | pathogenic | -0.233 | Destabilizing | 1.0 | D | 0.827 | 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.