Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33427 | 100504;100505;100506 | chr2:178536468;178536467;178536466 | chr2:179401195;179401194;179401193 |
| N2AB | 31786 | 95581;95582;95583 | chr2:178536468;178536467;178536466 | chr2:179401195;179401194;179401193 |
| N2A | 30859 | 92800;92801;92802 | chr2:178536468;178536467;178536466 | chr2:179401195;179401194;179401193 |
| N2B | 24362 | 73309;73310;73311 | chr2:178536468;178536467;178536466 | chr2:179401195;179401194;179401193 |
| Novex-1 | 24487 | 73684;73685;73686 | chr2:178536468;178536467;178536466 | chr2:179401195;179401194;179401193 |
| Novex-2 | 24554 | 73885;73886;73887 | chr2:178536468;178536467;178536466 | chr2:179401195;179401194;179401193 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs755215899  |
-1.414 | 0.999 | D | 0.657 | 0.843 | 0.754098630795 | gnomAD-2.1.1 | 1.26E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.78E-05 | 0 |
| Y/F | rs755215899 |
-1.414 | 0.999 | D | 0.657 | 0.843 | 0.754098630795 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs755215899 |
-1.414 | 0.999 | D | 0.657 | 0.843 | 0.754098630795 | gnomAD-4.0.0 | 2.87358E-05 | None | None | None | None | N | None | 1.34358E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.58076E-05 | 0 | 4.84668E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9913 | likely_pathogenic | 0.9946 | pathogenic | -3.582 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/C | 0.8351 | likely_pathogenic | 0.9032 | pathogenic | -2.044 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.64840506 | None | None | N |
| Y/D | 0.9926 | likely_pathogenic | 0.9955 | pathogenic | -4.008 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.648606864 | None | None | N |
| Y/E | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -3.8 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/F | 0.3472 | ambiguous | 0.3367 | benign | -1.534 | Destabilizing | 0.999 | D | 0.657 | neutral | D | 0.568360052 | None | None | N |
| Y/G | 0.9783 | likely_pathogenic | 0.9873 | pathogenic | -3.975 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| Y/H | 0.9604 | likely_pathogenic | 0.9721 | pathogenic | -2.645 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.648001451 | None | None | N |
| Y/I | 0.9605 | likely_pathogenic | 0.9711 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| Y/K | 0.9973 | likely_pathogenic | 0.9985 | pathogenic | -2.702 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/L | 0.9312 | likely_pathogenic | 0.9495 | pathogenic | -2.239 | Highly Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| Y/M | 0.9844 | likely_pathogenic | 0.9883 | pathogenic | -1.875 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/N | 0.9504 | likely_pathogenic | 0.9693 | pathogenic | -3.52 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.64840506 | None | None | N |
| Y/P | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -2.707 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| Y/Q | 0.9962 | likely_pathogenic | 0.9979 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/R | 0.9882 | likely_pathogenic | 0.993 | pathogenic | -2.414 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/S | 0.9641 | likely_pathogenic | 0.9792 | pathogenic | -3.797 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.64840506 | None | None | N |
| Y/T | 0.9855 | likely_pathogenic | 0.9909 | pathogenic | -3.477 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| Y/V | 0.9396 | likely_pathogenic | 0.9552 | pathogenic | -2.707 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| Y/W | 0.8796 | likely_pathogenic | 0.8865 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.807 | 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.