Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28632 | 86119;86120;86121 | chr2:178560238;178560237;178560236 | chr2:179424965;179424964;179424963 |
| N2AB | 26991 | 81196;81197;81198 | chr2:178560238;178560237;178560236 | chr2:179424965;179424964;179424963 |
| N2A | 26064 | 78415;78416;78417 | chr2:178560238;178560237;178560236 | chr2:179424965;179424964;179424963 |
| N2B | 19567 | 58924;58925;58926 | chr2:178560238;178560237;178560236 | chr2:179424965;179424964;179424963 |
| Novex-1 | 19692 | 59299;59300;59301 | chr2:178560238;178560237;178560236 | chr2:179424965;179424964;179424963 |
| Novex-2 | 19759 | 59500;59501;59502 | chr2:178560238;178560237;178560236 | chr2:179424965;179424964;179424963 |
| 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 | rs794729517  |
-0.462 | 1.0 | D | 0.755 | 0.616 | 0.55375338871 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs794729517 |
-0.462 | 1.0 | D | 0.755 | 0.616 | 0.55375338871 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs794729517 |
-0.462 | 1.0 | D | 0.755 | 0.616 | 0.55375338871 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | I | None | 2.41453E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7217 | likely_pathogenic | 0.6714 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.573488125 | None | None | I |
| G/C | 0.8415 | likely_pathogenic | 0.7879 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.574755573 | None | None | I |
| G/D | 0.9145 | likely_pathogenic | 0.89 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.547750548 | None | None | I |
| G/E | 0.9329 | likely_pathogenic | 0.9059 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/F | 0.9689 | likely_pathogenic | 0.9593 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/H | 0.9529 | likely_pathogenic | 0.9342 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9576 | likely_pathogenic | 0.9436 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/K | 0.9394 | likely_pathogenic | 0.9244 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9515 | likely_pathogenic | 0.9384 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/M | 0.968 | likely_pathogenic | 0.9587 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/N | 0.9265 | likely_pathogenic | 0.9096 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/P | 0.9947 | likely_pathogenic | 0.9949 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/Q | 0.9264 | likely_pathogenic | 0.8986 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | I |
| G/R | 0.8735 | likely_pathogenic | 0.8387 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.919 | deleterious | D | 0.562474215 | None | None | I |
| G/S | 0.5374 | ambiguous | 0.482 | ambiguous | -0.821 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.561713746 | None | None | I |
| G/T | 0.8632 | likely_pathogenic | 0.8309 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.9111 | likely_pathogenic | 0.8892 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.53546919 | None | None | I |
| G/W | 0.9528 | likely_pathogenic | 0.9357 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.9488 | likely_pathogenic | 0.9312 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
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.