Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33463 | 100612;100613;100614 | chr2:178536360;178536359;178536358 | chr2:179401087;179401086;179401085 |
| N2AB | 31822 | 95689;95690;95691 | chr2:178536360;178536359;178536358 | chr2:179401087;179401086;179401085 |
| N2A | 30895 | 92908;92909;92910 | chr2:178536360;178536359;178536358 | chr2:179401087;179401086;179401085 |
| N2B | 24398 | 73417;73418;73419 | chr2:178536360;178536359;178536358 | chr2:179401087;179401086;179401085 |
| Novex-1 | 24523 | 73792;73793;73794 | chr2:178536360;178536359;178536358 | chr2:179401087;179401086;179401085 |
| Novex-2 | 24590 | 73993;73994;73995 | chr2:178536360;178536359;178536358 | chr2:179401087;179401086;179401085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs780864416  |
-1.502 | 1.0 | D | 0.9 | 0.874 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/C | rs780864416 |
-1.502 | 1.0 | D | 0.9 | 0.874 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs780864416 |
-1.502 | 1.0 | D | 0.9 | 0.874 | None | gnomAD-4.0.0 | 3.84337E-06 | None | None | None | None | N | None | 3.38169E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.393E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9886 | likely_pathogenic | 0.9876 | pathogenic | -3.457 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| Y/C | 0.8805 | likely_pathogenic | 0.8443 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.643683149 | None | None | N |
| Y/D | 0.9857 | likely_pathogenic | 0.9879 | pathogenic | -3.791 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.66922126 | None | None | N |
| Y/E | 0.9951 | likely_pathogenic | 0.995 | pathogenic | -3.593 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/F | 0.4079 | ambiguous | 0.3311 | benign | -1.409 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | D | 0.625847549 | None | None | N |
| Y/G | 0.9704 | likely_pathogenic | 0.9754 | pathogenic | -3.854 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| Y/H | 0.9579 | likely_pathogenic | 0.9188 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.66922126 | None | None | N |
| Y/I | 0.9545 | likely_pathogenic | 0.9373 | pathogenic | -2.121 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/K | 0.9963 | likely_pathogenic | 0.9968 | pathogenic | -2.692 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/L | 0.9279 | likely_pathogenic | 0.9082 | pathogenic | -2.121 | Highly Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| Y/M | 0.9644 | likely_pathogenic | 0.9538 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/N | 0.9129 | likely_pathogenic | 0.8995 | pathogenic | -3.472 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.669019456 | None | None | N |
| Y/P | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -2.584 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| Y/Q | 0.9951 | likely_pathogenic | 0.9935 | pathogenic | -3.237 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/R | 0.9922 | likely_pathogenic | 0.9922 | pathogenic | -2.332 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/S | 0.9656 | likely_pathogenic | 0.9642 | pathogenic | -3.779 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.66922126 | None | None | N |
| Y/T | 0.9793 | likely_pathogenic | 0.9754 | pathogenic | -3.473 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/V | 0.9103 | likely_pathogenic | 0.8848 | pathogenic | -2.584 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| Y/W | 0.8331 | likely_pathogenic | 0.7969 | pathogenic | -0.731 | Destabilizing | 1.0 | D | 0.788 | 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.