Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29802 | 89629;89630;89631 | chr2:178553601;178553600;178553599 | chr2:179418328;179418327;179418326 |
| N2AB | 28161 | 84706;84707;84708 | chr2:178553601;178553600;178553599 | chr2:179418328;179418327;179418326 |
| N2A | 27234 | 81925;81926;81927 | chr2:178553601;178553600;178553599 | chr2:179418328;179418327;179418326 |
| N2B | 20737 | 62434;62435;62436 | chr2:178553601;178553600;178553599 | chr2:179418328;179418327;179418326 |
| Novex-1 | 20862 | 62809;62810;62811 | chr2:178553601;178553600;178553599 | chr2:179418328;179418327;179418326 |
| Novex-2 | 20929 | 63010;63011;63012 | chr2:178553601;178553600;178553599 | chr2:179418328;179418327;179418326 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | rs769366983  |
-0.597 | 0.071 | N | 0.315 | 0.365 | 0.435262743402 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/H | rs769366983 |
-0.597 | 0.071 | N | 0.315 | 0.365 | 0.435262743402 | gnomAD-4.0.0 | 7.52613E-06 | None | None | None | None | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 5.39675E-06 | 0 | 4.96952E-05 |
| P/L | rs769366983 |
None | 0.89 | N | 0.543 | 0.431 | 0.627983267216 | gnomAD-4.0.0 | 6.84194E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 0 | 0 |
| P/R | None | None | 0.942 | N | 0.551 | 0.459 | 0.511390160789 | gnomAD-4.0.0 | 6.84194E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 0 |
| P/S | rs1301048848 |
-0.789 | 0.698 | N | 0.437 | 0.323 | 0.299427821978 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/S | rs1301048848 |
-0.789 | 0.698 | N | 0.437 | 0.323 | 0.299427821978 | gnomAD-4.0.0 | 2.05256E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69835E-06 | 0 | 0 |
| P/T | None | None | 0.058 | N | 0.249 | 0.281 | 0.409800938858 | gnomAD-4.0.0 | 6.84187E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9945E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0816 | likely_benign | 0.0934 | benign | -0.857 | Destabilizing | 0.698 | D | 0.388 | neutral | N | 0.481818443 | None | None | N |
| P/C | 0.6093 | likely_pathogenic | 0.6611 | pathogenic | -0.643 | Destabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| P/D | 0.457 | ambiguous | 0.4895 | ambiguous | -0.635 | Destabilizing | 0.956 | D | 0.429 | neutral | None | None | None | None | N |
| P/E | 0.2436 | likely_benign | 0.2732 | benign | -0.723 | Destabilizing | 0.956 | D | 0.384 | neutral | None | None | None | None | N |
| P/F | 0.6783 | likely_pathogenic | 0.7025 | pathogenic | -0.893 | Destabilizing | 0.978 | D | 0.626 | neutral | None | None | None | None | N |
| P/G | 0.3627 | ambiguous | 0.4006 | ambiguous | -1.053 | Destabilizing | 0.86 | D | 0.469 | neutral | None | None | None | None | N |
| P/H | 0.3104 | likely_benign | 0.337 | benign | -0.567 | Destabilizing | 0.071 | N | 0.315 | neutral | N | 0.515993172 | None | None | N |
| P/I | 0.3685 | ambiguous | 0.4133 | ambiguous | -0.469 | Destabilizing | 0.956 | D | 0.615 | neutral | None | None | None | None | N |
| P/K | 0.4268 | ambiguous | 0.4597 | ambiguous | -0.735 | Destabilizing | 0.956 | D | 0.417 | neutral | None | None | None | None | N |
| P/L | 0.1777 | likely_benign | 0.1938 | benign | -0.469 | Destabilizing | 0.89 | D | 0.543 | neutral | N | 0.502408367 | None | None | N |
| P/M | 0.3398 | likely_benign | 0.3895 | ambiguous | -0.394 | Destabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| P/N | 0.3627 | ambiguous | 0.4078 | ambiguous | -0.411 | Destabilizing | 0.956 | D | 0.507 | neutral | None | None | None | None | N |
| P/Q | 0.2058 | likely_benign | 0.2378 | benign | -0.665 | Destabilizing | 0.956 | D | 0.456 | neutral | None | None | None | None | N |
| P/R | 0.3341 | likely_benign | 0.3634 | ambiguous | -0.152 | Destabilizing | 0.942 | D | 0.551 | neutral | N | 0.504129887 | None | None | N |
| P/S | 0.1684 | likely_benign | 0.1893 | benign | -0.813 | Destabilizing | 0.698 | D | 0.437 | neutral | N | 0.521381113 | None | None | N |
| P/T | 0.1049 | likely_benign | 0.1239 | benign | -0.799 | Destabilizing | 0.058 | N | 0.249 | neutral | N | 0.510876118 | None | None | N |
| P/V | 0.2312 | likely_benign | 0.2655 | benign | -0.562 | Destabilizing | 0.915 | D | 0.456 | neutral | None | None | None | None | N |
| P/W | 0.7785 | likely_pathogenic | 0.7927 | pathogenic | -0.977 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| P/Y | 0.5767 | likely_pathogenic | 0.6058 | pathogenic | -0.7 | Destabilizing | 0.915 | D | 0.624 | neutral | 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.