Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2704 | 8335;8336;8337 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
| N2AB | 2704 | 8335;8336;8337 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
| N2A | 2704 | 8335;8336;8337 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
| N2B | 2658 | 8197;8198;8199 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
| Novex-1 | 2658 | 8197;8198;8199 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
| Novex-2 | 2658 | 8197;8198;8199 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
| Novex-3 | 2704 | 8335;8336;8337 | chr2:178771217;178771216;178771215 | chr2:179635944;179635943;179635942 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1458291508  |
-2.317 | 0.999 | D | 0.621 | 0.423 | 0.367803931526 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| V/A | rs1458291508 |
-2.317 | 0.999 | D | 0.621 | 0.423 | 0.367803931526 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85664E-06 | 0 | 0 |
| V/D | None | None | 1.0 | D | 0.844 | 0.472 | 0.432604763906 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85664E-06 | 0 | 0 |
| V/F | None | None | 1.0 | N | 0.849 | 0.424 | 0.441740949975 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88189E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6737 | likely_pathogenic | 0.6638 | pathogenic | -2.162 | Highly Destabilizing | 0.999 | D | 0.621 | neutral | D | 0.57715929 | None | None | N |
| V/C | 0.9779 | likely_pathogenic | 0.979 | pathogenic | -1.843 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| V/D | 0.9886 | likely_pathogenic | 0.9881 | pathogenic | -2.947 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.579330681 | None | None | N |
| V/E | 0.9686 | likely_pathogenic | 0.9671 | pathogenic | -2.825 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/F | 0.905 | likely_pathogenic | 0.8964 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.504974295 | None | None | N |
| V/G | 0.7933 | likely_pathogenic | 0.7916 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.579330681 | None | None | N |
| V/H | 0.9956 | likely_pathogenic | 0.9949 | pathogenic | -2.0 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| V/I | 0.1576 | likely_benign | 0.1508 | benign | -1.069 | Destabilizing | 0.997 | D | 0.611 | neutral | N | 0.38412043 | None | None | N |
| V/K | 0.9793 | likely_pathogenic | 0.975 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| V/L | 0.8104 | likely_pathogenic | 0.8045 | pathogenic | -1.069 | Destabilizing | 0.997 | D | 0.613 | neutral | N | 0.446857285 | None | None | N |
| V/M | 0.7652 | likely_pathogenic | 0.7451 | pathogenic | -1.226 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/N | 0.9717 | likely_pathogenic | 0.9643 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/P | 0.9713 | likely_pathogenic | 0.9678 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| V/Q | 0.9792 | likely_pathogenic | 0.9759 | pathogenic | -1.941 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/R | 0.9686 | likely_pathogenic | 0.963 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/S | 0.9002 | likely_pathogenic | 0.8843 | pathogenic | -2.402 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/T | 0.7002 | likely_pathogenic | 0.677 | pathogenic | -2.174 | Highly Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/W | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/Y | 0.9864 | likely_pathogenic | 0.9856 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.857 | 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.