Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35453 | 106582;106583;106584 | chr2:178530258;178530257;178530256 | chr2:179394985;179394984;179394983 |
| N2AB | 33812 | 101659;101660;101661 | chr2:178530258;178530257;178530256 | chr2:179394985;179394984;179394983 |
| N2A | 32885 | 98878;98879;98880 | chr2:178530258;178530257;178530256 | chr2:179394985;179394984;179394983 |
| N2B | 26388 | 79387;79388;79389 | chr2:178530258;178530257;178530256 | chr2:179394985;179394984;179394983 |
| Novex-1 | 26513 | 79762;79763;79764 | chr2:178530258;178530257;178530256 | chr2:179394985;179394984;179394983 |
| Novex-2 | 26580 | 79963;79964;79965 | chr2:178530258;178530257;178530256 | chr2:179394985;179394984;179394983 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.808 | 0.883 | 0.773222466804 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| W/R | None | None | 0.999 | D | 0.832 | 0.92 | 0.951627751765 | gnomAD-4.0.0 | 1.61741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90436E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9848 | likely_pathogenic | 0.9859 | pathogenic | -2.851 | Highly Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| W/C | 0.9891 | likely_pathogenic | 0.9895 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.698189994 | None | None | N |
| W/D | 0.999 | likely_pathogenic | 0.999 | pathogenic | -3.086 | Highly Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| W/E | 0.9981 | likely_pathogenic | 0.998 | pathogenic | -2.956 | Highly Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| W/F | 0.4276 | ambiguous | 0.4185 | ambiguous | -1.666 | Destabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | N |
| W/G | 0.9675 | likely_pathogenic | 0.9695 | pathogenic | -3.11 | Highly Destabilizing | 0.997 | D | 0.776 | deleterious | D | 0.69798819 | None | None | N |
| W/H | 0.9952 | likely_pathogenic | 0.995 | pathogenic | -2.127 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| W/I | 0.8695 | likely_pathogenic | 0.8697 | pathogenic | -1.877 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| W/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -2.379 | Highly Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| W/L | 0.7504 | likely_pathogenic | 0.751 | pathogenic | -1.877 | Destabilizing | 0.997 | D | 0.776 | deleterious | D | 0.681968829 | None | None | N |
| W/M | 0.9571 | likely_pathogenic | 0.9579 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| W/N | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -3.103 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| W/P | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/Q | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.881 | Highly Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| W/R | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -2.231 | Highly Destabilizing | 0.999 | D | 0.832 | deleterious | D | 0.698189994 | None | None | N |
| W/S | 0.988 | likely_pathogenic | 0.9884 | pathogenic | -3.29 | Highly Destabilizing | 0.999 | D | 0.813 | deleterious | D | 0.698189994 | None | None | N |
| W/T | 0.9862 | likely_pathogenic | 0.9869 | pathogenic | -3.085 | Highly Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | None | None | N |
| W/V | 0.9033 | likely_pathogenic | 0.9037 | pathogenic | -2.231 | Highly Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| W/Y | 0.8752 | likely_pathogenic | 0.8782 | pathogenic | -1.509 | Destabilizing | 0.998 | D | 0.787 | 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.