Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22358 | 67297;67298;67299 | chr2:178580215;178580214;178580213 | chr2:179444942;179444941;179444940 |
| N2AB | 20717 | 62374;62375;62376 | chr2:178580215;178580214;178580213 | chr2:179444942;179444941;179444940 |
| N2A | 19790 | 59593;59594;59595 | chr2:178580215;178580214;178580213 | chr2:179444942;179444941;179444940 |
| N2B | 13293 | 40102;40103;40104 | chr2:178580215;178580214;178580213 | chr2:179444942;179444941;179444940 |
| Novex-1 | 13418 | 40477;40478;40479 | chr2:178580215;178580214;178580213 | chr2:179444942;179444941;179444940 |
| Novex-2 | 13485 | 40678;40679;40680 | chr2:178580215;178580214;178580213 | chr2:179444942;179444941;179444940 |
| 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/H | rs1256672495  |
-2.571 | 1.0 | D | 0.893 | 0.837 | 0.88078530331 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| P/H | rs1256672495 |
-2.571 | 1.0 | D | 0.893 | 0.837 | 0.88078530331 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/H | rs1256672495 |
-2.571 | 1.0 | D | 0.893 | 0.837 | 0.88078530331 | gnomAD-4.0.0 | 4.96058E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78312E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.922 | 0.82 | 0.920093100234 | gnomAD-4.0.0 | 6.84636E-07 | None | None | None | None | N | None | 0 | 2.23914E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.4197 | ambiguous | 0.3845 | ambiguous | -2.275 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.59720919 | None | None | N |
| P/C | 0.7144 | likely_pathogenic | 0.6735 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -3.297 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/E | 0.9954 | likely_pathogenic | 0.996 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/F | 0.9981 | likely_pathogenic | 0.9978 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/G | 0.9748 | likely_pathogenic | 0.9733 | pathogenic | -2.793 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| P/H | 0.9952 | likely_pathogenic | 0.995 | pathogenic | -2.597 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.662124211 | None | None | N |
| P/I | 0.7543 | likely_pathogenic | 0.753 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.938 | deleterious | None | None | None | None | N |
| P/K | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/L | 0.8445 | likely_pathogenic | 0.8146 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.922 | deleterious | D | 0.661720602 | None | None | N |
| P/M | 0.9576 | likely_pathogenic | 0.9504 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/N | 0.9952 | likely_pathogenic | 0.9947 | pathogenic | -2.369 | Highly Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| P/Q | 0.99 | likely_pathogenic | 0.9902 | pathogenic | -2.15 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/R | 0.9918 | likely_pathogenic | 0.9923 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.939 | deleterious | D | 0.661922407 | None | None | N |
| P/S | 0.9179 | likely_pathogenic | 0.908 | pathogenic | -2.867 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.645701241 | None | None | N |
| P/T | 0.7152 | likely_pathogenic | 0.6909 | pathogenic | -2.501 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.620132769 | None | None | N |
| P/V | 0.4021 | ambiguous | 0.3988 | ambiguous | -1.267 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.939 | 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.