Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33679 | 101260;101261;101262 | chr2:178535580;178535579;178535578 | chr2:179400307;179400306;179400305 |
| N2AB | 32038 | 96337;96338;96339 | chr2:178535580;178535579;178535578 | chr2:179400307;179400306;179400305 |
| N2A | 31111 | 93556;93557;93558 | chr2:178535580;178535579;178535578 | chr2:179400307;179400306;179400305 |
| N2B | 24614 | 74065;74066;74067 | chr2:178535580;178535579;178535578 | chr2:179400307;179400306;179400305 |
| Novex-1 | 24739 | 74440;74441;74442 | chr2:178535580;178535579;178535578 | chr2:179400307;179400306;179400305 |
| Novex-2 | 24806 | 74641;74642;74643 | chr2:178535580;178535579;178535578 | chr2:179400307;179400306;179400305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs561471402  |
0.242 | 0.927 | N | 0.479 | 0.153 | 0.171388866994 | 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 |
| Q/E | rs561471402 |
0.242 | 0.927 | N | 0.479 | 0.153 | 0.171388866994 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| Q/E | rs561471402 |
0.242 | 0.927 | N | 0.479 | 0.153 | 0.171388866994 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Q/E | rs561471402 |
0.242 | 0.927 | N | 0.479 | 0.153 | 0.171388866994 | gnomAD-4.0.0 | 6.56685E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.608 | likely_pathogenic | 0.5492 | ambiguous | -0.409 | Destabilizing | 0.99 | D | 0.641 | neutral | None | None | None | None | N |
| Q/C | 0.9472 | likely_pathogenic | 0.9084 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| Q/D | 0.9371 | likely_pathogenic | 0.8637 | pathogenic | -0.168 | Destabilizing | 0.984 | D | 0.504 | neutral | None | None | None | None | N |
| Q/E | 0.2629 | likely_benign | 0.168 | benign | -0.15 | Destabilizing | 0.927 | D | 0.479 | neutral | N | 0.448699003 | None | None | N |
| Q/F | 0.9733 | likely_pathogenic | 0.9489 | pathogenic | -0.328 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| Q/G | 0.8092 | likely_pathogenic | 0.7248 | pathogenic | -0.681 | Destabilizing | 0.995 | D | 0.635 | neutral | None | None | None | None | N |
| Q/H | 0.6994 | likely_pathogenic | 0.5677 | pathogenic | -0.582 | Destabilizing | 0.998 | D | 0.545 | neutral | N | 0.48995098 | None | None | N |
| Q/I | 0.8542 | likely_pathogenic | 0.7633 | pathogenic | 0.243 | Stabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| Q/K | 0.2942 | likely_benign | 0.1996 | benign | -0.209 | Destabilizing | 0.142 | N | 0.183 | neutral | N | 0.439252801 | None | None | N |
| Q/L | 0.63 | likely_pathogenic | 0.5044 | ambiguous | 0.243 | Stabilizing | 0.984 | D | 0.635 | neutral | N | 0.50395764 | None | None | N |
| Q/M | 0.6892 | likely_pathogenic | 0.6292 | pathogenic | 0.575 | Stabilizing | 0.999 | D | 0.545 | neutral | None | None | None | None | N |
| Q/N | 0.7291 | likely_pathogenic | 0.6368 | pathogenic | -0.551 | Destabilizing | 0.984 | D | 0.527 | neutral | None | None | None | None | N |
| Q/P | 0.9607 | likely_pathogenic | 0.9241 | pathogenic | 0.056 | Stabilizing | 0.998 | D | 0.665 | neutral | N | 0.503610924 | None | None | N |
| Q/R | 0.3764 | ambiguous | 0.2448 | benign | -0.079 | Destabilizing | 0.906 | D | 0.559 | neutral | N | 0.450912589 | None | None | N |
| Q/S | 0.5353 | ambiguous | 0.4731 | ambiguous | -0.582 | Destabilizing | 0.99 | D | 0.536 | neutral | None | None | None | None | N |
| Q/T | 0.4195 | ambiguous | 0.3465 | ambiguous | -0.391 | Destabilizing | 0.885 | D | 0.627 | neutral | None | None | None | None | N |
| Q/V | 0.6989 | likely_pathogenic | 0.5881 | pathogenic | 0.056 | Stabilizing | 0.988 | D | 0.662 | neutral | None | None | None | None | N |
| Q/W | 0.9694 | likely_pathogenic | 0.9282 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.9379 | likely_pathogenic | 0.8706 | pathogenic | -0.037 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | 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.