Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16887 | 50884;50885;50886 | chr2:178611570;178611569;178611568 | chr2:179476297;179476296;179476295 |
| N2AB | 15246 | 45961;45962;45963 | chr2:178611570;178611569;178611568 | chr2:179476297;179476296;179476295 |
| N2A | 14319 | 43180;43181;43182 | chr2:178611570;178611569;178611568 | chr2:179476297;179476296;179476295 |
| N2B | 7822 | 23689;23690;23691 | chr2:178611570;178611569;178611568 | chr2:179476297;179476296;179476295 |
| Novex-1 | 7947 | 24064;24065;24066 | chr2:178611570;178611569;178611568 | chr2:179476297;179476296;179476295 |
| Novex-2 | 8014 | 24265;24266;24267 | chr2:178611570;178611569;178611568 | chr2:179476297;179476296;179476295 |
| 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/H | rs1353291979  |
None | 1.0 | D | 0.813 | 0.873 | 0.817755219532 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1353291979 |
None | 1.0 | D | 0.813 | 0.873 | 0.817755219532 | gnomAD-4.0.0 | 3.84715E-06 | None | None | None | None | N | None | 0 | 1.6963E-05 | None | 0 | 2.4338E-05 | None | 0 | 0 | 2.3956E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.613 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| Y/C | 0.9665 | likely_pathogenic | 0.9666 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.81119639 | None | None | N |
| Y/D | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -3.859 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.810839219 | None | None | N |
| Y/E | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.652 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/F | 0.4208 | ambiguous | 0.4451 | ambiguous | -1.695 | Destabilizing | 0.999 | D | 0.643 | neutral | D | 0.625542627 | None | None | N |
| Y/G | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -3.985 | Highly Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| Y/H | 0.9936 | likely_pathogenic | 0.9941 | pathogenic | -2.826 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.811340355 | None | None | N |
| Y/I | 0.9899 | likely_pathogenic | 0.9905 | pathogenic | -2.331 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.692 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/L | 0.9686 | likely_pathogenic | 0.9713 | pathogenic | -2.331 | Highly Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| Y/M | 0.9938 | likely_pathogenic | 0.9942 | pathogenic | -1.958 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/N | 0.9908 | likely_pathogenic | 0.9901 | pathogenic | -3.47 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.81119639 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| Y/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.199 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/R | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/S | 0.9944 | likely_pathogenic | 0.9942 | pathogenic | -3.716 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.81119639 | None | None | N |
| Y/T | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -3.399 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/V | 0.9831 | likely_pathogenic | 0.9836 | pathogenic | -2.78 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| Y/W | 0.9098 | likely_pathogenic | 0.916 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.797 | 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.