Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26450 | 79573;79574;79575 | chr2:178566784;178566783;178566782 | chr2:179431511;179431510;179431509 |
| N2AB | 24809 | 74650;74651;74652 | chr2:178566784;178566783;178566782 | chr2:179431511;179431510;179431509 |
| N2A | 23882 | 71869;71870;71871 | chr2:178566784;178566783;178566782 | chr2:179431511;179431510;179431509 |
| N2B | 17385 | 52378;52379;52380 | chr2:178566784;178566783;178566782 | chr2:179431511;179431510;179431509 |
| Novex-1 | 17510 | 52753;52754;52755 | chr2:178566784;178566783;178566782 | chr2:179431511;179431510;179431509 |
| Novex-2 | 17577 | 52954;52955;52956 | chr2:178566784;178566783;178566782 | chr2:179431511;179431510;179431509 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs752326213  |
-0.117 | 0.997 | N | 0.763 | 0.527 | 0.700708160949 | 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 |
| G/R | rs752326213 |
-0.117 | 0.997 | N | 0.763 | 0.527 | 0.700708160949 | 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 |
| G/R | rs752326213 |
-0.117 | 0.997 | N | 0.763 | 0.527 | 0.700708160949 | gnomAD-4.0.0 | 5.12723E-06 | None | None | None | None | N | None | 1.69165E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18095E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3983 | ambiguous | 0.3479 | ambiguous | -0.284 | Destabilizing | 0.991 | D | 0.586 | neutral | D | 0.52713417 | None | None | N |
| G/C | 0.56 | ambiguous | 0.4928 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/D | 0.8806 | likely_pathogenic | 0.8333 | pathogenic | -0.337 | Destabilizing | 0.996 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/E | 0.9195 | likely_pathogenic | 0.8798 | pathogenic | -0.486 | Destabilizing | 0.652 | D | 0.477 | neutral | N | 0.489329044 | None | None | N |
| G/F | 0.9456 | likely_pathogenic | 0.9147 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/H | 0.8816 | likely_pathogenic | 0.8376 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/I | 0.904 | likely_pathogenic | 0.8648 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/K | 0.965 | likely_pathogenic | 0.9528 | pathogenic | -0.735 | Destabilizing | 0.996 | D | 0.754 | deleterious | None | None | None | None | N |
| G/L | 0.8795 | likely_pathogenic | 0.8475 | pathogenic | -0.361 | Destabilizing | 0.998 | D | 0.771 | deleterious | None | None | None | None | N |
| G/M | 0.8875 | likely_pathogenic | 0.8499 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/N | 0.6438 | likely_pathogenic | 0.5448 | ambiguous | -0.391 | Destabilizing | 0.998 | D | 0.755 | deleterious | None | None | None | None | N |
| G/P | 0.9862 | likely_pathogenic | 0.9833 | pathogenic | -0.301 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| G/Q | 0.8727 | likely_pathogenic | 0.8319 | pathogenic | -0.638 | Destabilizing | 0.996 | D | 0.765 | deleterious | None | None | None | None | N |
| G/R | 0.9154 | likely_pathogenic | 0.8823 | pathogenic | -0.345 | Destabilizing | 0.997 | D | 0.763 | deleterious | N | 0.497927099 | None | None | N |
| G/S | 0.2345 | likely_benign | 0.2056 | benign | -0.589 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | N |
| G/T | 0.5913 | likely_pathogenic | 0.552 | ambiguous | -0.656 | Destabilizing | 0.998 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/V | 0.8088 | likely_pathogenic | 0.7566 | pathogenic | -0.301 | Destabilizing | 0.999 | D | 0.767 | deleterious | D | 0.554392685 | None | None | N |
| G/W | 0.9168 | likely_pathogenic | 0.8797 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Y | 0.9058 | likely_pathogenic | 0.8559 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.791 | 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.