Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14075 | 42448;42449;42450 | chr2:178634558;178634557;178634556 | chr2:179499285;179499284;179499283 |
| N2AB | 12434 | 37525;37526;37527 | chr2:178634558;178634557;178634556 | chr2:179499285;179499284;179499283 |
| N2A | 11507 | 34744;34745;34746 | chr2:178634558;178634557;178634556 | chr2:179499285;179499284;179499283 |
| N2B | 5010 | 15253;15254;15255 | chr2:178634558;178634557;178634556 | chr2:179499285;179499284;179499283 |
| Novex-1 | 5135 | 15628;15629;15630 | chr2:178634558;178634557;178634556 | chr2:179499285;179499284;179499283 |
| Novex-2 | 5202 | 15829;15830;15831 | chr2:178634558;178634557;178634556 | chr2:179499285;179499284;179499283 |
| 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/F | None | None | 1.0 | D | 0.881 | 0.582 | 0.846589922519 | gnomAD-4.0.0 | 1.59215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7596 | likely_pathogenic | 0.7946 | pathogenic | -1.34 | Destabilizing | 0.998 | D | 0.648 | neutral | None | None | None | None | N |
| C/D | 0.997 | likely_pathogenic | 0.9969 | pathogenic | -1.821 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| C/E | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| C/F | 0.8565 | likely_pathogenic | 0.8541 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.730231784 | None | None | N |
| C/G | 0.7085 | likely_pathogenic | 0.7304 | pathogenic | -1.674 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.671101401 | None | None | N |
| C/H | 0.9954 | likely_pathogenic | 0.9954 | pathogenic | -1.895 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| C/I | 0.7462 | likely_pathogenic | 0.7865 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| C/L | 0.7765 | likely_pathogenic | 0.8185 | pathogenic | -0.424 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| C/M | 0.8583 | likely_pathogenic | 0.8778 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| C/N | 0.9848 | likely_pathogenic | 0.9847 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| C/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| C/Q | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| C/R | 0.9942 | likely_pathogenic | 0.9939 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.731337838 | None | None | N |
| C/S | 0.8532 | likely_pathogenic | 0.8769 | pathogenic | -2.125 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.655161849 | None | None | N |
| C/T | 0.8218 | likely_pathogenic | 0.8432 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| C/V | 0.584 | likely_pathogenic | 0.6198 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| C/W | 0.99 | likely_pathogenic | 0.9899 | pathogenic | -1.272 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.731337838 | None | None | N |
| C/Y | 0.9607 | likely_pathogenic | 0.9636 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.730231784 | 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.