Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7976 | 24151;24152;24153 | chr2:178719566;178719565;178719564 | chr2:179584293;179584292;179584291 |
| N2AB | 7659 | 23200;23201;23202 | chr2:178719566;178719565;178719564 | chr2:179584293;179584292;179584291 |
| N2A | 6732 | 20419;20420;20421 | chr2:178719566;178719565;178719564 | chr2:179584293;179584292;179584291 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs200395305  |
-0.294 | 0.983 | N | 0.611 | 0.214 | None | gnomAD-2.1.1 | 4.69E-05 | None | None | None | None | N | None | 2.48118E-04 | 5.68E-05 | None | 0 | 0 | None | 3.37E-05 | None | 4.06E-05 | 2.37E-05 | 0 |
| V/I | rs200395305 |
-0.294 | 0.983 | N | 0.611 | 0.214 | None | gnomAD-3.1.2 | 1.05164E-04 | None | None | None | None | N | None | 3.37724E-04 | 1.31062E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs200395305 |
-0.294 | 0.983 | N | 0.611 | 0.214 | None | gnomAD-4.0.0 | 6.97117E-05 | None | None | None | None | N | None | 3.20881E-04 | 6.68896E-05 | None | 0 | 0 | None | 3.13539E-05 | 1.65399E-04 | 6.38363E-05 | 5.5457E-05 | 1.60844E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7127 | likely_pathogenic | 0.723 | pathogenic | -2.183 | Highly Destabilizing | 0.99 | D | 0.664 | neutral | D | 0.522458183 | None | None | N |
| V/C | 0.9473 | likely_pathogenic | 0.9528 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/D | 0.9947 | likely_pathogenic | 0.9946 | pathogenic | -3.195 | Highly Destabilizing | 0.265 | N | 0.659 | neutral | D | 0.522965163 | None | None | N |
| V/E | 0.9842 | likely_pathogenic | 0.9839 | pathogenic | -2.915 | Highly Destabilizing | 0.991 | D | 0.833 | deleterious | None | None | None | None | N |
| V/F | 0.5418 | ambiguous | 0.5338 | ambiguous | -1.224 | Destabilizing | 0.998 | D | 0.833 | deleterious | N | 0.487464215 | None | None | N |
| V/G | 0.8801 | likely_pathogenic | 0.8796 | pathogenic | -2.773 | Highly Destabilizing | 0.997 | D | 0.849 | deleterious | D | 0.522965163 | None | None | N |
| V/H | 0.9938 | likely_pathogenic | 0.994 | pathogenic | -2.729 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/I | 0.0806 | likely_benign | 0.0857 | benign | -0.492 | Destabilizing | 0.983 | D | 0.611 | neutral | N | 0.485206016 | None | None | N |
| V/K | 0.9867 | likely_pathogenic | 0.9887 | pathogenic | -1.833 | Destabilizing | 0.998 | D | 0.839 | deleterious | None | None | None | None | N |
| V/L | 0.323 | likely_benign | 0.3265 | benign | -0.492 | Destabilizing | 0.142 | N | 0.333 | neutral | N | 0.401839979 | None | None | N |
| V/M | 0.3946 | ambiguous | 0.3953 | ambiguous | -0.662 | Destabilizing | 0.996 | D | 0.74 | deleterious | None | None | None | None | N |
| V/N | 0.98 | likely_pathogenic | 0.9805 | pathogenic | -2.361 | Highly Destabilizing | 0.996 | D | 0.883 | deleterious | None | None | None | None | N |
| V/P | 0.9815 | likely_pathogenic | 0.9844 | pathogenic | -1.034 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | N |
| V/Q | 0.9799 | likely_pathogenic | 0.9794 | pathogenic | -2.08 | Highly Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | N |
| V/R | 0.9765 | likely_pathogenic | 0.9783 | pathogenic | -1.837 | Destabilizing | 0.998 | D | 0.881 | deleterious | None | None | None | None | N |
| V/S | 0.9295 | likely_pathogenic | 0.9341 | pathogenic | -2.912 | Highly Destabilizing | 0.996 | D | 0.847 | deleterious | None | None | None | None | N |
| V/T | 0.8331 | likely_pathogenic | 0.8412 | pathogenic | -2.481 | Highly Destabilizing | 0.993 | D | 0.688 | prob.neutral | None | None | None | None | N |
| V/W | 0.9908 | likely_pathogenic | 0.9917 | pathogenic | -1.89 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/Y | 0.9655 | likely_pathogenic | 0.9685 | pathogenic | -1.506 | Destabilizing | 0.999 | D | 0.82 | 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.