Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35445 | 106558;106559;106560 | chr2:178530282;178530281;178530280 | chr2:179395009;179395008;179395007 |
| N2AB | 33804 | 101635;101636;101637 | chr2:178530282;178530281;178530280 | chr2:179395009;179395008;179395007 |
| N2A | 32877 | 98854;98855;98856 | chr2:178530282;178530281;178530280 | chr2:179395009;179395008;179395007 |
| N2B | 26380 | 79363;79364;79365 | chr2:178530282;178530281;178530280 | chr2:179395009;179395008;179395007 |
| Novex-1 | 26505 | 79738;79739;79740 | chr2:178530282;178530281;178530280 | chr2:179395009;179395008;179395007 |
| Novex-2 | 26572 | 79939;79940;79941 | chr2:178530282;178530281;178530280 | chr2:179395009;179395008;179395007 |
| 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/E | None | None | 1.0 | D | 0.82 | 0.762 | 0.626065636982 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 | 0.2679 | likely_benign | 0.2819 | benign | -0.618 | Destabilizing | 0.999 | D | 0.641 | neutral | D | 0.561375471 | None | None | N |
| G/C | 0.7082 | likely_pathogenic | 0.7534 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/D | 0.8461 | likely_pathogenic | 0.9079 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/E | 0.8202 | likely_pathogenic | 0.8936 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.622970542 | None | None | N |
| G/F | 0.9507 | likely_pathogenic | 0.9652 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/H | 0.9525 | likely_pathogenic | 0.9704 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/I | 0.8166 | likely_pathogenic | 0.8689 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/K | 0.9342 | likely_pathogenic | 0.9617 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/L | 0.8816 | likely_pathogenic | 0.912 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.9154 | likely_pathogenic | 0.9431 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| G/N | 0.873 | likely_pathogenic | 0.9224 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/P | 0.9794 | likely_pathogenic | 0.9859 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.8834 | likely_pathogenic | 0.9265 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/R | 0.8496 | likely_pathogenic | 0.8987 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.64262238 | None | None | N |
| G/S | 0.2671 | likely_benign | 0.3102 | benign | -0.972 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/T | 0.593 | likely_pathogenic | 0.6663 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/V | 0.6735 | likely_pathogenic | 0.7407 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.605243871 | None | None | N |
| G/W | 0.9047 | likely_pathogenic | 0.9367 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9386 | likely_pathogenic | 0.9589 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.781 | 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.