Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22206 | 66841;66842;66843 | chr2:178581652;178581651;178581650 | chr2:179446379;179446378;179446377 |
| N2AB | 20565 | 61918;61919;61920 | chr2:178581652;178581651;178581650 | chr2:179446379;179446378;179446377 |
| N2A | 19638 | 59137;59138;59139 | chr2:178581652;178581651;178581650 | chr2:179446379;179446378;179446377 |
| N2B | 13141 | 39646;39647;39648 | chr2:178581652;178581651;178581650 | chr2:179446379;179446378;179446377 |
| Novex-1 | 13266 | 40021;40022;40023 | chr2:178581652;178581651;178581650 | chr2:179446379;179446378;179446377 |
| Novex-2 | 13333 | 40222;40223;40224 | chr2:178581652;178581651;178581650 | chr2:179446379;179446378;179446377 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/W | None | None | 1.0 | N | 0.817 | 0.466 | 0.420447328233 | gnomAD-4.0.0 | 6.84639E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65821E-05 |
| C/Y | None | None | 1.0 | N | 0.846 | 0.488 | 0.705321725469 | gnomAD-4.0.0 | 2.73852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5993E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7526 | likely_pathogenic | 0.7508 | pathogenic | -1.475 | Destabilizing | 0.998 | D | 0.506 | neutral | None | None | None | None | N |
| C/D | 0.9891 | likely_pathogenic | 0.9866 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/E | 0.9891 | likely_pathogenic | 0.9862 | pathogenic | 0.126 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| C/F | 0.7388 | likely_pathogenic | 0.7023 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.472984492 | None | None | N |
| C/G | 0.7096 | likely_pathogenic | 0.7117 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.482267336 | None | None | N |
| C/H | 0.9456 | likely_pathogenic | 0.9305 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| C/I | 0.7166 | likely_pathogenic | 0.6999 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| C/K | 0.9859 | likely_pathogenic | 0.9827 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/L | 0.8006 | likely_pathogenic | 0.7855 | pathogenic | -0.701 | Destabilizing | 0.999 | D | 0.539 | neutral | None | None | None | None | N |
| C/M | 0.8862 | likely_pathogenic | 0.8743 | pathogenic | 0.167 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| C/N | 0.952 | likely_pathogenic | 0.9423 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| C/P | 0.9862 | likely_pathogenic | 0.9869 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| C/Q | 0.9598 | likely_pathogenic | 0.9479 | pathogenic | -0.614 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/R | 0.9321 | likely_pathogenic | 0.9146 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.488722117 | None | None | N |
| C/S | 0.7853 | likely_pathogenic | 0.7684 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.48289922 | None | None | N |
| C/T | 0.8433 | likely_pathogenic | 0.8337 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| C/V | 0.5532 | ambiguous | 0.5538 | ambiguous | -0.933 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| C/W | 0.9373 | likely_pathogenic | 0.9234 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.509614756 | None | None | N |
| C/Y | 0.8535 | likely_pathogenic | 0.8185 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.846 | deleterious | N | 0.487520802 | 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.