Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23000 | 69223;69224;69225 | chr2:178577337;178577336;178577335 | chr2:179442064;179442063;179442062 |
| N2AB | 21359 | 64300;64301;64302 | chr2:178577337;178577336;178577335 | chr2:179442064;179442063;179442062 |
| N2A | 20432 | 61519;61520;61521 | chr2:178577337;178577336;178577335 | chr2:179442064;179442063;179442062 |
| N2B | 13935 | 42028;42029;42030 | chr2:178577337;178577336;178577335 | chr2:179442064;179442063;179442062 |
| Novex-1 | 14060 | 42403;42404;42405 | chr2:178577337;178577336;178577335 | chr2:179442064;179442063;179442062 |
| Novex-2 | 14127 | 42604;42605;42606 | chr2:178577337;178577336;178577335 | chr2:179442064;179442063;179442062 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.996 | N | 0.534 | 0.281 | 0.163833314356 | gnomAD-4.0.0 | 6.84358E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15953E-05 | 0 |
| P/T | None | None | 0.884 | N | 0.33 | 0.264 | 0.267299060538 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0961 | likely_benign | 0.0955 | benign | -0.314 | Destabilizing | 0.996 | D | 0.534 | neutral | N | 0.451109298 | None | None | N |
| P/C | 0.6848 | likely_pathogenic | 0.6809 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| P/D | 0.4845 | ambiguous | 0.5365 | ambiguous | -0.058 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| P/E | 0.3349 | likely_benign | 0.3743 | ambiguous | -0.171 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| P/F | 0.6366 | likely_pathogenic | 0.6313 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| P/G | 0.3835 | ambiguous | 0.4075 | ambiguous | -0.402 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| P/H | 0.305 | likely_benign | 0.3165 | benign | -0.003 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/I | 0.3824 | ambiguous | 0.3717 | ambiguous | -0.234 | Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| P/K | 0.3948 | ambiguous | 0.4276 | ambiguous | -0.271 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/L | 0.1634 | likely_benign | 0.1549 | benign | -0.234 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | N | 0.486011306 | None | None | N |
| P/M | 0.3561 | ambiguous | 0.3482 | ambiguous | -0.407 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| P/N | 0.3888 | ambiguous | 0.3961 | ambiguous | -0.095 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| P/Q | 0.2224 | likely_benign | 0.2329 | benign | -0.294 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.498593814 | None | None | N |
| P/R | 0.2801 | likely_benign | 0.303 | benign | 0.163 | Stabilizing | 0.999 | D | 0.728 | prob.delet. | N | 0.511445681 | None | None | N |
| P/S | 0.1579 | likely_benign | 0.1624 | benign | -0.455 | Destabilizing | 0.998 | D | 0.655 | neutral | N | 0.457533838 | None | None | N |
| P/T | 0.1309 | likely_benign | 0.1336 | benign | -0.466 | Destabilizing | 0.884 | D | 0.33 | neutral | N | 0.508386733 | None | None | N |
| P/V | 0.2661 | likely_benign | 0.2605 | benign | -0.229 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| P/W | 0.8018 | likely_pathogenic | 0.8168 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/Y | 0.5505 | ambiguous | 0.562 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.744 | 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.