Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33650 | 101173;101174;101175 | chr2:178535667;178535666;178535665 | chr2:179400394;179400393;179400392 |
| N2AB | 32009 | 96250;96251;96252 | chr2:178535667;178535666;178535665 | chr2:179400394;179400393;179400392 |
| N2A | 31082 | 93469;93470;93471 | chr2:178535667;178535666;178535665 | chr2:179400394;179400393;179400392 |
| N2B | 24585 | 73978;73979;73980 | chr2:178535667;178535666;178535665 | chr2:179400394;179400393;179400392 |
| Novex-1 | 24710 | 74353;74354;74355 | chr2:178535667;178535666;178535665 | chr2:179400394;179400393;179400392 |
| Novex-2 | 24777 | 74554;74555;74556 | chr2:178535667;178535666;178535665 | chr2:179400394;179400393;179400392 |
| 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 | None | None | 1.0 | D | 0.759 | 0.614 | 0.663301836877 | gnomAD-4.0.0 | 4.78946E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.2963E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9883 | likely_pathogenic | 0.9579 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| F/C | 0.9611 | likely_pathogenic | 0.858 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.528267013 | None | None | N |
| F/D | 0.9981 | likely_pathogenic | 0.9913 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/E | 0.9974 | likely_pathogenic | 0.9884 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| F/G | 0.9964 | likely_pathogenic | 0.988 | pathogenic | -2.607 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| F/H | 0.9534 | likely_pathogenic | 0.8995 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| F/I | 0.9514 | likely_pathogenic | 0.8546 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.482819938 | None | None | N |
| F/K | 0.9972 | likely_pathogenic | 0.9902 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| F/L | 0.9965 | likely_pathogenic | 0.9889 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.561 | neutral | N | 0.493461006 | None | None | N |
| F/M | 0.9712 | likely_pathogenic | 0.9254 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| F/N | 0.987 | likely_pathogenic | 0.9567 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| F/Q | 0.9923 | likely_pathogenic | 0.9761 | pathogenic | -1.28 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| F/R | 0.991 | likely_pathogenic | 0.9729 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| F/S | 0.9799 | likely_pathogenic | 0.9249 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.485513526 | None | None | N |
| F/T | 0.988 | likely_pathogenic | 0.9544 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| F/V | 0.9335 | likely_pathogenic | 0.823 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.484033446 | None | None | N |
| F/W | 0.928 | likely_pathogenic | 0.8782 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| F/Y | 0.5858 | likely_pathogenic | 0.4275 | ambiguous | -0.523 | Destabilizing | 0.999 | D | 0.5 | neutral | N | 0.490479416 | 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.