Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23682 | 71269;71270;71271 | chr2:178575088;178575087;178575086 | chr2:179439815;179439814;179439813 |
| N2AB | 22041 | 66346;66347;66348 | chr2:178575088;178575087;178575086 | chr2:179439815;179439814;179439813 |
| N2A | 21114 | 63565;63566;63567 | chr2:178575088;178575087;178575086 | chr2:179439815;179439814;179439813 |
| N2B | 14617 | 44074;44075;44076 | chr2:178575088;178575087;178575086 | chr2:179439815;179439814;179439813 |
| Novex-1 | 14742 | 44449;44450;44451 | chr2:178575088;178575087;178575086 | chr2:179439815;179439814;179439813 |
| Novex-2 | 14809 | 44650;44651;44652 | chr2:178575088;178575087;178575086 | chr2:179439815;179439814;179439813 |
| 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/C | rs562662770  |
-1.805 | 0.196 | D | 0.546 | 0.23 | 0.652102323148 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/C | rs562662770 |
-1.805 | 0.196 | D | 0.546 | 0.23 | 0.652102323148 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/C | rs562662770 |
-1.805 | 0.196 | D | 0.546 | 0.23 | 0.652102323148 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| F/C | rs562662770 |
-1.805 | 0.196 | D | 0.546 | 0.23 | 0.652102323148 | gnomAD-4.0.0 | 1.85956E-06 | None | None | None | None | N | None | 1.33333E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69551E-06 | 0 | 0 |
| F/L | rs183466952 |
-1.494 | 0.001 | N | 0.223 | 0.077 | 0.309839678437 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs183466952 |
-1.494 | 0.001 | N | 0.223 | 0.077 | 0.309839678437 | gnomAD-4.0.0 | 3.18465E-06 | None | None | None | None | N | None | 0 | 4.57519E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs562662770 |
-3.081 | None | N | 0.263 | 0.285 | 0.571034400148 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.665E-04 |
| F/S | rs562662770 |
-3.081 | None | N | 0.263 | 0.285 | 0.571034400148 | gnomAD-4.0.0 | 1.36879E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 8.99585E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.1832 | likely_benign | 0.1869 | benign | -2.668 | Highly Destabilizing | 0.002 | N | 0.358 | neutral | None | None | None | None | N |
| F/C | 0.1203 | likely_benign | 0.1385 | benign | -1.665 | Destabilizing | 0.196 | N | 0.546 | neutral | D | 0.531096674 | None | None | N |
| F/D | 0.5886 | likely_pathogenic | 0.6231 | pathogenic | -2.0 | Highly Destabilizing | 0.044 | N | 0.546 | neutral | None | None | None | None | N |
| F/E | 0.6138 | likely_pathogenic | 0.6478 | pathogenic | -1.856 | Destabilizing | 0.018 | N | 0.5 | neutral | None | None | None | None | N |
| F/G | 0.4582 | ambiguous | 0.4906 | ambiguous | -3.073 | Highly Destabilizing | 0.009 | N | 0.398 | neutral | None | None | None | None | N |
| F/H | 0.3404 | ambiguous | 0.3857 | ambiguous | -1.362 | Destabilizing | 0.138 | N | 0.475 | neutral | None | None | None | None | N |
| F/I | 0.0694 | likely_benign | 0.0699 | benign | -1.397 | Destabilizing | None | N | 0.05 | neutral | N | 0.351487462 | None | None | N |
| F/K | 0.6056 | likely_pathogenic | 0.6414 | pathogenic | -1.667 | Destabilizing | 0.009 | N | 0.528 | neutral | None | None | None | None | N |
| F/L | 0.4772 | ambiguous | 0.4954 | ambiguous | -1.397 | Destabilizing | 0.001 | N | 0.223 | neutral | N | 0.410978482 | None | None | N |
| F/M | 0.1758 | likely_benign | 0.1844 | benign | -1.129 | Destabilizing | 0.138 | N | 0.435 | neutral | None | None | None | None | N |
| F/N | 0.3697 | ambiguous | 0.3989 | ambiguous | -1.845 | Destabilizing | 0.022 | N | 0.573 | neutral | None | None | None | None | N |
| F/P | 0.9084 | likely_pathogenic | 0.901 | pathogenic | -1.823 | Destabilizing | 0.085 | N | 0.593 | neutral | None | None | None | None | N |
| F/Q | 0.4925 | ambiguous | 0.5287 | ambiguous | -1.898 | Destabilizing | 0.044 | N | 0.616 | neutral | None | None | None | None | N |
| F/R | 0.5173 | ambiguous | 0.5416 | ambiguous | -1.027 | Destabilizing | 0.044 | N | 0.615 | neutral | None | None | None | None | N |
| F/S | 0.1635 | likely_benign | 0.1768 | benign | -2.664 | Highly Destabilizing | None | N | 0.263 | neutral | N | 0.468624064 | None | None | N |
| F/T | 0.134 | likely_benign | 0.1268 | benign | -2.416 | Highly Destabilizing | None | N | 0.24 | neutral | None | None | None | None | N |
| F/V | 0.0631 | likely_benign | 0.0617 | benign | -1.823 | Destabilizing | None | N | 0.119 | neutral | N | 0.398161114 | None | None | N |
| F/W | 0.3065 | likely_benign | 0.353 | ambiguous | -0.428 | Destabilizing | 0.245 | N | 0.455 | neutral | None | None | None | None | N |
| F/Y | 0.1033 | likely_benign | 0.1233 | benign | -0.736 | Destabilizing | None | N | 0.16 | neutral | N | 0.454174686 | 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.