Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24718 | 74377;74378;74379 | chr2:178571980;178571979;178571978 | chr2:179436707;179436706;179436705 |
| N2AB | 23077 | 69454;69455;69456 | chr2:178571980;178571979;178571978 | chr2:179436707;179436706;179436705 |
| N2A | 22150 | 66673;66674;66675 | chr2:178571980;178571979;178571978 | chr2:179436707;179436706;179436705 |
| N2B | 15653 | 47182;47183;47184 | chr2:178571980;178571979;178571978 | chr2:179436707;179436706;179436705 |
| Novex-1 | 15778 | 47557;47558;47559 | chr2:178571980;178571979;178571978 | chr2:179436707;179436706;179436705 |
| Novex-2 | 15845 | 47758;47759;47760 | chr2:178571980;178571979;178571978 | chr2:179436707;179436706;179436705 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs773802084  |
-1.364 | 0.006 | N | 0.308 | 0.433 | 0.411001663086 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| F/L | rs773802084 |
-1.364 | 0.006 | N | 0.308 | 0.433 | 0.411001663086 | gnomAD-4.0.0 | 3.18498E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71935E-06 | 0 | 0 |
| F/S | None | None | 0.97 | D | 0.832 | 0.723 | 0.862802660111 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.7231 | likely_pathogenic | 0.6443 | pathogenic | -2.524 | Highly Destabilizing | 0.86 | D | 0.784 | deleterious | None | None | None | None | N |
| F/C | 0.3407 | ambiguous | 0.2697 | benign | -1.563 | Destabilizing | 0.997 | D | 0.853 | deleterious | D | 0.543703575 | None | None | N |
| F/D | 0.991 | likely_pathogenic | 0.984 | pathogenic | -2.718 | Highly Destabilizing | 0.993 | D | 0.875 | deleterious | None | None | None | None | N |
| F/E | 0.9879 | likely_pathogenic | 0.9791 | pathogenic | -2.517 | Highly Destabilizing | 0.978 | D | 0.872 | deleterious | None | None | None | None | N |
| F/G | 0.9204 | likely_pathogenic | 0.8832 | pathogenic | -2.964 | Highly Destabilizing | 0.978 | D | 0.861 | deleterious | None | None | None | None | N |
| F/H | 0.9325 | likely_pathogenic | 0.9051 | pathogenic | -1.401 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| F/I | 0.3295 | likely_benign | 0.2255 | benign | -1.108 | Destabilizing | 0.698 | D | 0.661 | neutral | D | 0.524402775 | None | None | N |
| F/K | 0.9821 | likely_pathogenic | 0.9708 | pathogenic | -1.95 | Destabilizing | 0.978 | D | 0.868 | deleterious | None | None | None | None | N |
| F/L | 0.8633 | likely_pathogenic | 0.7426 | pathogenic | -1.108 | Destabilizing | 0.006 | N | 0.308 | neutral | N | 0.516652871 | None | None | N |
| F/M | 0.6049 | likely_pathogenic | 0.4794 | ambiguous | -0.82 | Destabilizing | 0.956 | D | 0.669 | neutral | None | None | None | None | N |
| F/N | 0.9587 | likely_pathogenic | 0.9339 | pathogenic | -2.403 | Highly Destabilizing | 0.993 | D | 0.873 | deleterious | None | None | None | None | N |
| F/P | 0.9795 | likely_pathogenic | 0.9616 | pathogenic | -1.588 | Destabilizing | 0.993 | D | 0.883 | deleterious | None | None | None | None | N |
| F/Q | 0.9676 | likely_pathogenic | 0.9483 | pathogenic | -2.336 | Highly Destabilizing | 0.993 | D | 0.884 | deleterious | None | None | None | None | N |
| F/R | 0.9624 | likely_pathogenic | 0.9427 | pathogenic | -1.497 | Destabilizing | 0.978 | D | 0.877 | deleterious | None | None | None | None | N |
| F/S | 0.8226 | likely_pathogenic | 0.7437 | pathogenic | -3.056 | Highly Destabilizing | 0.97 | D | 0.832 | deleterious | D | 0.543196596 | None | None | N |
| F/T | 0.844 | likely_pathogenic | 0.7544 | pathogenic | -2.744 | Highly Destabilizing | 0.956 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.2778 | likely_benign | 0.1931 | benign | -1.588 | Destabilizing | 0.698 | D | 0.695 | prob.neutral | N | 0.496738958 | None | None | N |
| F/W | 0.7905 | likely_pathogenic | 0.7355 | pathogenic | -0.096 | Destabilizing | 0.998 | D | 0.667 | neutral | None | None | None | None | N |
| F/Y | 0.3846 | ambiguous | 0.35 | ambiguous | -0.465 | Destabilizing | 0.904 | D | 0.662 | neutral | D | 0.543450086 | 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.