Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24225 | 72898;72899;72900 | chr2:178573459;178573458;178573457 | chr2:179438186;179438185;179438184 |
| N2AB | 22584 | 67975;67976;67977 | chr2:178573459;178573458;178573457 | chr2:179438186;179438185;179438184 |
| N2A | 21657 | 65194;65195;65196 | chr2:178573459;178573458;178573457 | chr2:179438186;179438185;179438184 |
| N2B | 15160 | 45703;45704;45705 | chr2:178573459;178573458;178573457 | chr2:179438186;179438185;179438184 |
| Novex-1 | 15285 | 46078;46079;46080 | chr2:178573459;178573458;178573457 | chr2:179438186;179438185;179438184 |
| Novex-2 | 15352 | 46279;46280;46281 | chr2:178573459;178573458;178573457 | chr2:179438186;179438185;179438184 |
| 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/L | rs55992239  |
-0.605 | 1.0 | D | 0.911 | 0.485 | None | gnomAD-2.1.1 | 8.85E-05 | None | None | None | None | N | None | 8.67E-05 | 0 | None | 0 | 1.82304E-04 | None | 1.42714E-04 | None | 0 | 1.09649E-04 | 0 |
| P/L | rs55992239 |
-0.605 | 1.0 | D | 0.911 | 0.485 | None | gnomAD-3.1.2 | 1.05251E-04 | None | None | None | None | N | None | 4.83E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.76507E-04 | 2.07383E-04 | 0 |
| P/L | rs55992239 |
-0.605 | 1.0 | D | 0.911 | 0.485 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| P/L | rs55992239 |
-0.605 | 1.0 | D | 0.911 | 0.485 | None | gnomAD-4.0.0 | 1.7709E-04 | None | None | None | None | N | None | 8.37474E-05 | 2.31825E-05 | None | 0 | 4.58253E-05 | None | 0 | 0 | 2.17721E-04 | 5.58005E-05 | 1.374E-04 |
| P/Q | None | None | 1.0 | N | 0.882 | 0.477 | 0.535247687934 | gnomAD-4.0.0 | 7.34635E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.37647E-07 | 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 | 0.0567 | likely_benign | 0.0527 | benign | -1.568 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.485787593 | None | None | N |
| P/C | 0.3483 | ambiguous | 0.323 | benign | -1.299 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/D | 0.7505 | likely_pathogenic | 0.7569 | pathogenic | -2.639 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/E | 0.377 | ambiguous | 0.3616 | ambiguous | -2.639 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/F | 0.5047 | ambiguous | 0.4912 | ambiguous | -1.318 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/G | 0.3542 | ambiguous | 0.3328 | benign | -1.864 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/H | 0.2568 | likely_benign | 0.2575 | benign | -1.399 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/I | 0.319 | likely_benign | 0.2979 | benign | -0.833 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/K | 0.3149 | likely_benign | 0.3118 | benign | -1.336 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/L | 0.1806 | likely_benign | 0.1742 | benign | -0.833 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.526116531 | None | None | N |
| P/M | 0.3111 | likely_benign | 0.2967 | benign | -0.663 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/N | 0.5208 | ambiguous | 0.5079 | ambiguous | -1.338 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/Q | 0.1655 | likely_benign | 0.1539 | benign | -1.579 | Destabilizing | 1.0 | D | 0.882 | deleterious | N | 0.519569164 | None | None | N |
| P/R | 0.1936 | likely_benign | 0.1854 | benign | -0.78 | Destabilizing | 1.0 | D | 0.921 | deleterious | N | 0.513492778 | None | None | N |
| P/S | 0.1206 | likely_benign | 0.1148 | benign | -1.685 | Destabilizing | 1.0 | D | 0.869 | deleterious | N | 0.478498809 | None | None | N |
| P/T | 0.1364 | likely_benign | 0.1311 | benign | -1.594 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.509480307 | None | None | N |
| P/V | 0.2199 | likely_benign | 0.2036 | benign | -1.048 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/W | 0.7662 | likely_pathogenic | 0.755 | pathogenic | -1.582 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/Y | 0.5426 | ambiguous | 0.5239 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.934 | 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.