Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1629 | 5110;5111;5112 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
| N2AB | 1629 | 5110;5111;5112 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
| N2A | 1629 | 5110;5111;5112 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
| N2B | 1583 | 4972;4973;4974 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
| Novex-1 | 1583 | 4972;4973;4974 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
| Novex-2 | 1583 | 4972;4973;4974 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
| Novex-3 | 1629 | 5110;5111;5112 | chr2:178776979;178776978;178776977 | chr2:179641706;179641705;179641704 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.999 | D | 0.596 | 0.528 | 0.264547087235 | gnomAD-4.0.0 | 1.59077E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02224E-05 |
| T/I | None | None | 1.0 | D | 0.799 | 0.523 | 0.504113619024 | gnomAD-4.0.0 | 1.59084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85665E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.7543 | likely_pathogenic | 0.6238 | pathogenic | -1.457 | Destabilizing | 0.999 | D | 0.596 | neutral | D | 0.580408306 | None | None | N |
| T/C | 0.9666 | likely_pathogenic | 0.9365 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| T/D | 0.995 | likely_pathogenic | 0.9919 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/E | 0.9849 | likely_pathogenic | 0.9778 | pathogenic | -1.577 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| T/F | 0.965 | likely_pathogenic | 0.9395 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/G | 0.9499 | likely_pathogenic | 0.9104 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/H | 0.9605 | likely_pathogenic | 0.9331 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| T/I | 0.8894 | likely_pathogenic | 0.843 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.532884468 | None | None | N |
| T/K | 0.9699 | likely_pathogenic | 0.9516 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/L | 0.7768 | likely_pathogenic | 0.6763 | pathogenic | -0.406 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/M | 0.6099 | likely_pathogenic | 0.4575 | ambiguous | -0.499 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| T/N | 0.9249 | likely_pathogenic | 0.8732 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | D | 0.594963735 | None | None | N |
| T/P | 0.9811 | likely_pathogenic | 0.9688 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.67195618 | None | None | N |
| T/Q | 0.9429 | likely_pathogenic | 0.9108 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| T/R | 0.959 | likely_pathogenic | 0.9288 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| T/S | 0.7698 | likely_pathogenic | 0.6571 | pathogenic | -1.455 | Destabilizing | 0.999 | D | 0.576 | neutral | N | 0.443343885 | None | None | N |
| T/V | 0.7516 | likely_pathogenic | 0.6845 | pathogenic | -0.729 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| T/W | 0.9896 | likely_pathogenic | 0.9824 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/Y | 0.9749 | likely_pathogenic | 0.9516 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.846 | 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.