Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29784 | 89575;89576;89577 | chr2:178553655;178553654;178553653 | chr2:179418382;179418381;179418380 |
| N2AB | 28143 | 84652;84653;84654 | chr2:178553655;178553654;178553653 | chr2:179418382;179418381;179418380 |
| N2A | 27216 | 81871;81872;81873 | chr2:178553655;178553654;178553653 | chr2:179418382;179418381;179418380 |
| N2B | 20719 | 62380;62381;62382 | chr2:178553655;178553654;178553653 | chr2:179418382;179418381;179418380 |
| Novex-1 | 20844 | 62755;62756;62757 | chr2:178553655;178553654;178553653 | chr2:179418382;179418381;179418380 |
| Novex-2 | 20911 | 62956;62957;62958 | chr2:178553655;178553654;178553653 | chr2:179418382;179418381;179418380 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs1187385222  |
-0.817 | 1.0 | N | 0.83 | 0.421 | 0.818184022373 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/D | rs1187385222 |
-0.817 | 1.0 | N | 0.83 | 0.421 | 0.818184022373 | gnomAD-4.0.0 | 3.18227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| V/L | rs1316888674 |
None | 0.981 | N | 0.421 | 0.171 | 0.397540356873 | 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 |
| V/L | rs1316888674 |
None | 0.981 | N | 0.421 | 0.171 | 0.397540356873 | gnomAD-4.0.0 | 2.56201E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39281E-06 | 0 | 2.84398E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2076 | likely_benign | 0.1864 | benign | -1.191 | Destabilizing | 0.998 | D | 0.49 | neutral | N | 0.466071256 | None | None | N |
| V/C | 0.6867 | likely_pathogenic | 0.6917 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| V/D | 0.682 | likely_pathogenic | 0.6412 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.488676572 | None | None | N |
| V/E | 0.5504 | ambiguous | 0.5192 | ambiguous | -0.442 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/F | 0.2302 | likely_benign | 0.2217 | benign | -0.776 | Destabilizing | 0.999 | D | 0.813 | deleterious | N | 0.469024927 | None | None | N |
| V/G | 0.3856 | ambiguous | 0.353 | ambiguous | -1.542 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.474775826 | None | None | N |
| V/H | 0.7251 | likely_pathogenic | 0.72 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/I | 0.0822 | likely_benign | 0.081 | benign | -0.324 | Destabilizing | 0.767 | D | 0.349 | neutral | N | 0.474266665 | None | None | N |
| V/K | 0.5382 | ambiguous | 0.5316 | ambiguous | -0.904 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| V/L | 0.2491 | likely_benign | 0.2384 | benign | -0.324 | Destabilizing | 0.981 | D | 0.421 | neutral | N | 0.493852503 | None | None | N |
| V/M | 0.2186 | likely_benign | 0.1955 | benign | -0.415 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| V/N | 0.5614 | ambiguous | 0.5268 | ambiguous | -0.844 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/P | 0.7356 | likely_pathogenic | 0.7117 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/Q | 0.5323 | ambiguous | 0.5267 | ambiguous | -0.876 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/R | 0.4856 | ambiguous | 0.4823 | ambiguous | -0.572 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/S | 0.3702 | ambiguous | 0.3434 | ambiguous | -1.48 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| V/T | 0.2951 | likely_benign | 0.2711 | benign | -1.299 | Destabilizing | 0.998 | D | 0.607 | neutral | None | None | None | None | N |
| V/W | 0.8942 | likely_pathogenic | 0.8905 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| V/Y | 0.6433 | likely_pathogenic | 0.6459 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.823 | 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.