Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18617 | 56074;56075;56076 | chr2:178601055;178601054;178601053 | chr2:179465782;179465781;179465780 |
| N2AB | 16976 | 51151;51152;51153 | chr2:178601055;178601054;178601053 | chr2:179465782;179465781;179465780 |
| N2A | 16049 | 48370;48371;48372 | chr2:178601055;178601054;178601053 | chr2:179465782;179465781;179465780 |
| N2B | 9552 | 28879;28880;28881 | chr2:178601055;178601054;178601053 | chr2:179465782;179465781;179465780 |
| Novex-1 | 9677 | 29254;29255;29256 | chr2:178601055;178601054;178601053 | chr2:179465782;179465781;179465780 |
| Novex-2 | 9744 | 29455;29456;29457 | chr2:178601055;178601054;178601053 | chr2:179465782;179465781;179465780 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs878854316  |
None | 0.999 | N | 0.67 | 0.291 | 0.233150807113 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| E/D | rs878854316 |
None | 0.999 | N | 0.67 | 0.291 | 0.233150807113 | gnomAD-4.0.0 | 2.0537E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.97166E-05 |
| E/G | None | None | 1.0 | D | 0.746 | 0.546 | 0.680383660926 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| E/V | None | None | 1.0 | N | 0.751 | 0.558 | 0.756058230077 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.9161 | likely_pathogenic | 0.8994 | pathogenic | -2.591 | Highly Destabilizing | 0.999 | D | 0.702 | prob.neutral | D | 0.527785144 | None | None | N |
| E/C | 0.99 | likely_pathogenic | 0.9887 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| E/D | 0.6316 | likely_pathogenic | 0.71 | pathogenic | -1.946 | Destabilizing | 0.999 | D | 0.67 | neutral | N | 0.468130008 | None | None | N |
| E/F | 0.9963 | likely_pathogenic | 0.9957 | pathogenic | -2.319 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/G | 0.9448 | likely_pathogenic | 0.9388 | pathogenic | -2.929 | Highly Destabilizing | 1.0 | D | 0.746 | deleterious | D | 0.529559571 | None | None | N |
| E/H | 0.9816 | likely_pathogenic | 0.9801 | pathogenic | -2.153 | Highly Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| E/I | 0.9905 | likely_pathogenic | 0.9883 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| E/K | 0.972 | likely_pathogenic | 0.9702 | pathogenic | -2.636 | Highly Destabilizing | 0.999 | D | 0.702 | prob.neutral | D | 0.526517697 | None | None | N |
| E/L | 0.9899 | likely_pathogenic | 0.9879 | pathogenic | -1.597 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| E/M | 0.9866 | likely_pathogenic | 0.984 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/N | 0.9698 | likely_pathogenic | 0.971 | pathogenic | -2.647 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| E/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| E/Q | 0.8073 | likely_pathogenic | 0.7883 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.524618127 | None | None | N |
| E/R | 0.9746 | likely_pathogenic | 0.9733 | pathogenic | -2.292 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| E/S | 0.9083 | likely_pathogenic | 0.8993 | pathogenic | -3.372 | Highly Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | N |
| E/T | 0.9738 | likely_pathogenic | 0.968 | pathogenic | -3.05 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| E/V | 0.9716 | likely_pathogenic | 0.9653 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.517024724 | None | None | N |
| E/W | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -2.364 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| E/Y | 0.9902 | likely_pathogenic | 0.9897 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.781 | 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.