Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26463 | 79612;79613;79614 | chr2:178566745;178566744;178566743 | chr2:179431472;179431471;179431470 |
| N2AB | 24822 | 74689;74690;74691 | chr2:178566745;178566744;178566743 | chr2:179431472;179431471;179431470 |
| N2A | 23895 | 71908;71909;71910 | chr2:178566745;178566744;178566743 | chr2:179431472;179431471;179431470 |
| N2B | 17398 | 52417;52418;52419 | chr2:178566745;178566744;178566743 | chr2:179431472;179431471;179431470 |
| Novex-1 | 17523 | 52792;52793;52794 | chr2:178566745;178566744;178566743 | chr2:179431472;179431471;179431470 |
| Novex-2 | 17590 | 52993;52994;52995 | chr2:178566745;178566744;178566743 | chr2:179431472;179431471;179431470 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 1.0 | D | 0.621 | 0.728 | 0.670813272841 | gnomAD-4.0.0 | 3.42197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49767E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8698 | likely_pathogenic | 0.8608 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/D | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/E | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -2.882 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.666396051 | None | None | N |
| A/F | 0.9958 | likely_pathogenic | 0.9956 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| A/G | 0.6334 | likely_pathogenic | 0.6866 | pathogenic | -2.211 | Highly Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.593244543 | None | None | N |
| A/H | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/I | 0.9861 | likely_pathogenic | 0.9876 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/K | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/L | 0.9472 | likely_pathogenic | 0.9502 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/M | 0.975 | likely_pathogenic | 0.9751 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/N | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -2.001 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/P | 0.9889 | likely_pathogenic | 0.9893 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.624202805 | None | None | N |
| A/Q | 0.9948 | likely_pathogenic | 0.9937 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/R | 0.997 | likely_pathogenic | 0.9958 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/S | 0.4416 | ambiguous | 0.4898 | ambiguous | -2.338 | Highly Destabilizing | 1.0 | D | 0.609 | neutral | D | 0.586370685 | None | None | N |
| A/T | 0.8639 | likely_pathogenic | 0.896 | pathogenic | -2.019 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.628210325 | None | None | N |
| A/V | 0.9016 | likely_pathogenic | 0.9161 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.632944699 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| A/Y | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.901 | 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.