Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3726 | 11401;11402;11403 | chr2:178756300;178756299;178756298 | chr2:179621027;179621026;179621025 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3555 | 10888;10889;10890 | chr2:178756300;178756299;178756298 | chr2:179621027;179621026;179621025 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | None | None | None | 0.459 | None | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-06 | 0 | 0 |
| D/G | rs548947930  |
None | None | None | None | 0.378 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| D/G | rs548947930 |
None | None | None | None | 0.378 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs548947930 |
None | None | None | None | 0.378 | None | gnomAD-4.0.0 | 5.12361E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57144E-06 | 0 | 0 |
| D/V | rs548947930 |
0.721 | None | None | None | 0.651 | 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 |
| D/V | rs548947930 |
0.721 | None | None | None | 0.651 | 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 |
| D/V | rs548947930 |
0.721 | None | None | None | 0.651 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/V | rs548947930 |
0.721 | None | None | None | 0.651 | None | gnomAD-4.0.0 | 6.56366E-06 | None | None | None | None | N | None | 2.40419E-05 | 0 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9291 | likely_pathogenic | None | None | 0.908 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/C | 0.9716 | likely_pathogenic | None | None | 0.615 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.8046 | likely_pathogenic | None | None | -0.543 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/F | 0.9697 | likely_pathogenic | None | None | 1.501 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.9009 | likely_pathogenic | None | None | 0.43 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/H | 0.8385 | likely_pathogenic | None | None | 1.045 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/I | 0.98 | likely_pathogenic | None | None | 2.189 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.9687 | likely_pathogenic | None | None | 0.27 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9608 | likely_pathogenic | None | None | 2.189 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9899 | likely_pathogenic | None | None | 2.494 | Highly Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.711 | likely_pathogenic | None | None | -0.489 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/P | 0.9911 | likely_pathogenic | None | None | 1.794 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.9522 | likely_pathogenic | None | None | -0.089 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.9676 | likely_pathogenic | None | None | 0.178 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.8289 | likely_pathogenic | None | None | -0.765 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.9665 | likely_pathogenic | None | None | -0.329 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.945 | likely_pathogenic | None | None | 1.794 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/W | 0.9911 | likely_pathogenic | None | None | 1.341 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.7966 | likely_pathogenic | None | None | 1.717 | Stabilizing | None | None | None | None | 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.