Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27385 | 82378;82379;82380 | chr2:178563979;178563978;178563977 | chr2:179428706;179428705;179428704 |
| N2AB | 25744 | 77455;77456;77457 | chr2:178563979;178563978;178563977 | chr2:179428706;179428705;179428704 |
| N2A | 24817 | 74674;74675;74676 | chr2:178563979;178563978;178563977 | chr2:179428706;179428705;179428704 |
| N2B | 18320 | 55183;55184;55185 | chr2:178563979;178563978;178563977 | chr2:179428706;179428705;179428704 |
| Novex-1 | 18445 | 55558;55559;55560 | chr2:178563979;178563978;178563977 | chr2:179428706;179428705;179428704 |
| Novex-2 | 18512 | 55759;55760;55761 | chr2:178563979;178563978;178563977 | chr2:179428706;179428705;179428704 |
| 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/G | rs745887048  |
-1.179 | 0.988 | D | 0.655 | 0.36 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs745887048 |
-1.179 | 0.988 | D | 0.655 | 0.36 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs745887048 |
-1.179 | 0.988 | D | 0.655 | 0.36 | None | gnomAD-4.0.0 | 3.84369E-06 | None | None | None | None | N | None | 3.38329E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39323E-06 | 0 | 0 |
| E/K | None | None | 0.067 | N | 0.255 | 0.245 | 0.3085936734 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
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 | 0.4548 | ambiguous | 0.482 | ambiguous | -0.816 | Destabilizing | 0.919 | D | 0.551 | neutral | N | 0.521481822 | None | None | N |
| E/C | 0.9621 | likely_pathogenic | 0.9652 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| E/D | 0.2136 | likely_benign | 0.2255 | benign | -0.877 | Destabilizing | 0.958 | D | 0.463 | neutral | N | 0.436612354 | None | None | N |
| E/F | 0.9564 | likely_pathogenic | 0.962 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| E/G | 0.3221 | likely_benign | 0.3218 | benign | -1.1 | Destabilizing | 0.988 | D | 0.655 | neutral | D | 0.522481899 | None | None | N |
| E/H | 0.8291 | likely_pathogenic | 0.8361 | pathogenic | -0.877 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| E/I | 0.8485 | likely_pathogenic | 0.8615 | pathogenic | -0.066 | Destabilizing | 0.995 | D | 0.743 | deleterious | None | None | None | None | N |
| E/K | 0.4481 | ambiguous | 0.4296 | ambiguous | -0.326 | Destabilizing | 0.067 | N | 0.255 | neutral | N | 0.518268158 | None | None | N |
| E/L | 0.7979 | likely_pathogenic | 0.8094 | pathogenic | -0.066 | Destabilizing | 0.991 | D | 0.724 | prob.delet. | None | None | None | None | N |
| E/M | 0.8196 | likely_pathogenic | 0.8366 | pathogenic | 0.37 | Stabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| E/N | 0.4722 | ambiguous | 0.5224 | ambiguous | -0.637 | Destabilizing | 0.991 | D | 0.671 | neutral | None | None | None | None | N |
| E/P | 0.9759 | likely_pathogenic | 0.9715 | pathogenic | -0.295 | Destabilizing | 0.995 | D | 0.695 | prob.neutral | None | None | None | None | N |
| E/Q | 0.315 | likely_benign | 0.314 | benign | -0.585 | Destabilizing | 0.958 | D | 0.586 | neutral | N | 0.468646533 | None | None | N |
| E/R | 0.6199 | likely_pathogenic | 0.6004 | pathogenic | -0.17 | Destabilizing | 0.982 | D | 0.653 | neutral | None | None | None | None | N |
| E/S | 0.4327 | ambiguous | 0.4675 | ambiguous | -0.887 | Destabilizing | 0.968 | D | 0.571 | neutral | None | None | None | None | N |
| E/T | 0.4964 | ambiguous | 0.5508 | ambiguous | -0.66 | Destabilizing | 0.991 | D | 0.669 | neutral | None | None | None | None | N |
| E/V | 0.6552 | likely_pathogenic | 0.6752 | pathogenic | -0.295 | Destabilizing | 0.988 | D | 0.712 | prob.delet. | N | 0.48947304 | None | None | N |
| E/W | 0.979 | likely_pathogenic | 0.9807 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9116 | likely_pathogenic | 0.918 | pathogenic | -0.424 | Destabilizing | 0.998 | D | 0.702 | prob.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.