Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27953 | 84082;84083;84084 | chr2:178562275;178562274;178562273 | chr2:179427002;179427001;179427000 |
| N2AB | 26312 | 79159;79160;79161 | chr2:178562275;178562274;178562273 | chr2:179427002;179427001;179427000 |
| N2A | 25385 | 76378;76379;76380 | chr2:178562275;178562274;178562273 | chr2:179427002;179427001;179427000 |
| N2B | 18888 | 56887;56888;56889 | chr2:178562275;178562274;178562273 | chr2:179427002;179427001;179427000 |
| Novex-1 | 19013 | 57262;57263;57264 | chr2:178562275;178562274;178562273 | chr2:179427002;179427001;179427000 |
| Novex-2 | 19080 | 57463;57464;57465 | chr2:178562275;178562274;178562273 | chr2:179427002;179427001;179427000 |
| 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/S | rs770320215  |
-0.952 | 1.0 | N | 0.911 | 0.461 | 0.618243236666 | 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 |
| P/S | rs770320215 |
-0.952 | 1.0 | N | 0.911 | 0.461 | 0.618243236666 | 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 |
| P/S | rs770320215 |
-0.952 | 1.0 | N | 0.911 | 0.461 | 0.618243236666 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 2.41488E-05 | 0 | 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 | 0.1502 | likely_benign | 0.1501 | benign | -0.837 | Destabilizing | 0.998 | D | 0.864 | deleterious | N | 0.4980895 | None | None | N |
| P/C | 0.8119 | likely_pathogenic | 0.802 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/D | 0.8227 | likely_pathogenic | 0.7905 | pathogenic | -0.694 | Destabilizing | 0.999 | D | 0.916 | deleterious | None | None | None | None | N |
| P/E | 0.6985 | likely_pathogenic | 0.6686 | pathogenic | -0.732 | Destabilizing | 0.999 | D | 0.908 | deleterious | None | None | None | None | N |
| P/F | 0.8374 | likely_pathogenic | 0.8348 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/G | 0.6054 | likely_pathogenic | 0.5668 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| P/H | 0.4961 | ambiguous | 0.4794 | ambiguous | -0.488 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/I | 0.7025 | likely_pathogenic | 0.6948 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/K | 0.7452 | likely_pathogenic | 0.7289 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| P/L | 0.314 | likely_benign | 0.3148 | benign | -0.332 | Destabilizing | 1.0 | D | 0.919 | deleterious | N | 0.516562603 | None | None | N |
| P/M | 0.6384 | likely_pathogenic | 0.6215 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/N | 0.6228 | likely_pathogenic | 0.5825 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| P/Q | 0.4543 | ambiguous | 0.4344 | ambiguous | -0.871 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.524702905 | None | None | N |
| P/R | 0.5552 | ambiguous | 0.5482 | ambiguous | -0.332 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.527665419 | None | None | N |
| P/S | 0.2548 | likely_benign | 0.2424 | benign | -1.117 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.505584691 | None | None | N |
| P/T | 0.2437 | likely_benign | 0.2377 | benign | -1.047 | Destabilizing | 1.0 | D | 0.903 | deleterious | N | 0.516055624 | None | None | N |
| P/V | 0.5075 | ambiguous | 0.4962 | ambiguous | -0.465 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/W | 0.9231 | likely_pathogenic | 0.9173 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Y | 0.8259 | likely_pathogenic | 0.8176 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.918 | 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.