Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22530 | 67813;67814;67815 | chr2:178579609;178579608;178579607 | chr2:179444336;179444335;179444334 |
| N2AB | 20889 | 62890;62891;62892 | chr2:178579609;178579608;178579607 | chr2:179444336;179444335;179444334 |
| N2A | 19962 | 60109;60110;60111 | chr2:178579609;178579608;178579607 | chr2:179444336;179444335;179444334 |
| N2B | 13465 | 40618;40619;40620 | chr2:178579609;178579608;178579607 | chr2:179444336;179444335;179444334 |
| Novex-1 | 13590 | 40993;40994;40995 | chr2:178579609;178579608;178579607 | chr2:179444336;179444335;179444334 |
| Novex-2 | 13657 | 41194;41195;41196 | chr2:178579609;178579608;178579607 | chr2:179444336;179444335;179444334 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1198096692  |
None | 0.949 | D | 0.533 | 0.549 | 0.394384168047 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/A | rs1198096692 |
None | 0.949 | D | 0.533 | 0.549 | 0.394384168047 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8601E-06 | 0 | 0 |
| G/V | rs1198096692 |
None | 1.0 | D | 0.893 | 0.535 | 0.701159624266 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1198096692 |
None | 1.0 | D | 0.893 | 0.535 | 0.701159624266 | gnomAD-4.0.0 | 6.57739E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93798E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5098 | ambiguous | 0.5481 | ambiguous | -0.644 | Destabilizing | 0.949 | D | 0.533 | neutral | D | 0.531602212 | None | None | N |
| G/C | 0.6609 | likely_pathogenic | 0.7002 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/D | 0.7224 | likely_pathogenic | 0.7988 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/E | 0.7581 | likely_pathogenic | 0.8189 | pathogenic | -1.525 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.554479407 | None | None | N |
| G/F | 0.9362 | likely_pathogenic | 0.9567 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/H | 0.8085 | likely_pathogenic | 0.8593 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/I | 0.8914 | likely_pathogenic | 0.9282 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/K | 0.7373 | likely_pathogenic | 0.8009 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/L | 0.889 | likely_pathogenic | 0.9256 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| G/M | 0.9021 | likely_pathogenic | 0.9317 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/N | 0.7682 | likely_pathogenic | 0.8275 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/P | 0.9942 | likely_pathogenic | 0.9963 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/Q | 0.7102 | likely_pathogenic | 0.7661 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/R | 0.5997 | likely_pathogenic | 0.6711 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.543376591 | None | None | N |
| G/S | 0.3494 | ambiguous | 0.3981 | ambiguous | -0.871 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| G/T | 0.6643 | likely_pathogenic | 0.73 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/V | 0.823 | likely_pathogenic | 0.8756 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.554986386 | None | None | N |
| G/W | 0.8785 | likely_pathogenic | 0.9156 | pathogenic | -1.483 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Y | 0.8902 | likely_pathogenic | 0.9241 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.893 | 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.