Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34965 | 105118;105119;105120 | chr2:178531722;178531721;178531720 | chr2:179396449;179396448;179396447 |
| N2AB | 33324 | 100195;100196;100197 | chr2:178531722;178531721;178531720 | chr2:179396449;179396448;179396447 |
| N2A | 32397 | 97414;97415;97416 | chr2:178531722;178531721;178531720 | chr2:179396449;179396448;179396447 |
| N2B | 25900 | 77923;77924;77925 | chr2:178531722;178531721;178531720 | chr2:179396449;179396448;179396447 |
| Novex-1 | 26025 | 78298;78299;78300 | chr2:178531722;178531721;178531720 | chr2:179396449;179396448;179396447 |
| Novex-2 | 26092 | 78499;78500;78501 | chr2:178531722;178531721;178531720 | chr2:179396449;179396448;179396447 |
| 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 | None | None | 0.767 | D | 0.262 | 0.247 | 0.551838628669 | gnomAD-4.0.0 | 1.36828E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7988E-06 | 0 | 0 |
| V/L | rs886042785  |
-0.858 | 0.981 | D | 0.645 | 0.43 | 0.590433232774 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| V/L | rs886042785 |
-0.858 | 0.981 | D | 0.645 | 0.43 | 0.590433232774 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 4.38597E-03 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/L | rs886042785 |
-0.858 | 0.981 | D | 0.645 | 0.43 | 0.590433232774 | gnomAD-4.0.0 | 7.43553E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93277E-06 | 0 | 1.60082E-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 | 0.9017 | likely_pathogenic | 0.9299 | pathogenic | -1.9 | Destabilizing | 0.998 | D | 0.635 | neutral | D | 0.544188976 | None | None | N |
| V/C | 0.9624 | likely_pathogenic | 0.9644 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/D | 0.9978 | likely_pathogenic | 0.998 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.609678231 | None | None | N |
| V/E | 0.9913 | likely_pathogenic | 0.9917 | pathogenic | -2.126 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/F | 0.8562 | likely_pathogenic | 0.9108 | pathogenic | -1.4 | Destabilizing | 0.999 | D | 0.837 | deleterious | D | 0.555473144 | None | None | N |
| V/G | 0.9527 | likely_pathogenic | 0.96 | pathogenic | -2.287 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.609678231 | None | None | N |
| V/H | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.1423 | likely_benign | 0.1778 | benign | -0.896 | Destabilizing | 0.767 | D | 0.262 | neutral | D | 0.540953883 | None | None | N |
| V/K | 0.9938 | likely_pathogenic | 0.9941 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.7633 | likely_pathogenic | 0.8299 | pathogenic | -0.896 | Destabilizing | 0.981 | D | 0.645 | neutral | D | 0.571418302 | None | None | N |
| V/M | 0.7037 | likely_pathogenic | 0.7938 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| V/N | 0.9922 | likely_pathogenic | 0.9934 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/Q | 0.9876 | likely_pathogenic | 0.9886 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/R | 0.9888 | likely_pathogenic | 0.9876 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.9677 | likely_pathogenic | 0.9726 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/T | 0.8622 | likely_pathogenic | 0.8966 | pathogenic | -1.958 | Destabilizing | 0.998 | D | 0.69 | prob.neutral | None | None | None | None | N |
| V/W | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| V/Y | 0.9879 | likely_pathogenic | 0.9915 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.835 | 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.