Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29118 | 87577;87578;87579 | chr2:178558002;178558001;178558000 | chr2:179422729;179422728;179422727 |
| N2AB | 27477 | 82654;82655;82656 | chr2:178558002;178558001;178558000 | chr2:179422729;179422728;179422727 |
| N2A | 26550 | 79873;79874;79875 | chr2:178558002;178558001;178558000 | chr2:179422729;179422728;179422727 |
| N2B | 20053 | 60382;60383;60384 | chr2:178558002;178558001;178558000 | chr2:179422729;179422728;179422727 |
| Novex-1 | 20178 | 60757;60758;60759 | chr2:178558002;178558001;178558000 | chr2:179422729;179422728;179422727 |
| Novex-2 | 20245 | 60958;60959;60960 | chr2:178558002;178558001;178558000 | chr2:179422729;179422728;179422727 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.998 | N | 0.565 | 0.468 | 0.397838977388 | gnomAD-4.0.0 | 1.20032E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-05 | 0 | 0 |
| T/I | rs1342749098  |
0.014 | 0.884 | N | 0.386 | 0.363 | 0.556733452047 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/P | rs767023377 |
-0.624 | 1.0 | N | 0.813 | 0.651 | 0.689816159312 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.53704E-04 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs767023377 |
-0.624 | 1.0 | N | 0.813 | 0.651 | 0.689816159312 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85654E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs767023377 |
-0.624 | 1.0 | N | 0.813 | 0.651 | 0.689816159312 | gnomAD-4.0.0 | 3.04478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.4029E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0971 | likely_benign | 0.0972 | benign | -0.796 | Destabilizing | 0.998 | D | 0.565 | neutral | N | 0.489517898 | None | None | N |
| T/C | 0.3641 | ambiguous | 0.3391 | benign | -0.812 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| T/D | 0.5797 | likely_pathogenic | 0.5409 | ambiguous | -1.364 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/E | 0.3749 | ambiguous | 0.3383 | benign | -1.329 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/F | 0.2272 | likely_benign | 0.2134 | benign | -0.926 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| T/G | 0.3586 | ambiguous | 0.362 | ambiguous | -1.059 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/H | 0.2653 | likely_benign | 0.2475 | benign | -1.4 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/I | 0.123 | likely_benign | 0.1195 | benign | -0.176 | Destabilizing | 0.884 | D | 0.386 | neutral | N | 0.490024877 | None | None | N |
| T/K | 0.2883 | likely_benign | 0.2665 | benign | -0.788 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/L | 0.0981 | likely_benign | 0.095 | benign | -0.176 | Destabilizing | 0.994 | D | 0.604 | neutral | None | None | None | None | N |
| T/M | 0.0864 | likely_benign | 0.0873 | benign | 0.114 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| T/N | 0.1744 | likely_benign | 0.1797 | benign | -1.013 | Destabilizing | 1.0 | D | 0.762 | deleterious | N | 0.501292277 | None | None | N |
| T/P | 0.771 | likely_pathogenic | 0.7292 | pathogenic | -0.352 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.51391603 | None | None | N |
| T/Q | 0.2644 | likely_benign | 0.2515 | benign | -1.243 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| T/R | 0.2334 | likely_benign | 0.2167 | benign | -0.541 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| T/S | 0.1257 | likely_benign | 0.1256 | benign | -1.141 | Destabilizing | 0.999 | D | 0.547 | neutral | N | 0.501038788 | None | None | N |
| T/V | 0.1071 | likely_benign | 0.1041 | benign | -0.352 | Destabilizing | 0.985 | D | 0.565 | neutral | None | None | None | None | N |
| T/W | 0.6007 | likely_pathogenic | 0.5599 | ambiguous | -0.932 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/Y | 0.3201 | likely_benign | 0.2881 | benign | -0.613 | Destabilizing | 1.0 | D | 0.872 | 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.