Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2629 | 8110;8111;8112 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
| N2AB | 2629 | 8110;8111;8112 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
| N2A | 2629 | 8110;8111;8112 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
| N2B | 2583 | 7972;7973;7974 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
| Novex-1 | 2583 | 7972;7973;7974 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
| Novex-2 | 2583 | 7972;7973;7974 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
| Novex-3 | 2629 | 8110;8111;8112 | chr2:178771442;178771441;178771440 | chr2:179636169;179636168;179636167 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1360901635  |
None | None | N | 0.155 | 0.113 | 0.223847106136 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30976E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs1360901635 |
None | None | N | 0.155 | 0.113 | 0.223847106136 | gnomAD-4.0.0 | 1.31432E-05 | None | None | None | None | N | None | 0 | 1.30976E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.288 | likely_benign | 0.3031 | benign | -0.78 | Destabilizing | 0.008 | N | 0.262 | neutral | None | None | None | None | N |
| Q/C | 0.4976 | ambiguous | 0.5396 | ambiguous | -0.034 | Destabilizing | 0.497 | N | 0.522 | neutral | None | None | None | None | N |
| Q/D | 0.6816 | likely_pathogenic | 0.6798 | pathogenic | -0.682 | Destabilizing | 0.018 | N | 0.423 | neutral | None | None | None | None | N |
| Q/E | 0.1076 | likely_benign | 0.1076 | benign | -0.556 | Destabilizing | 0.007 | N | 0.339 | neutral | N | 0.510675662 | None | None | N |
| Q/F | 0.6235 | likely_pathogenic | 0.65 | pathogenic | -0.389 | Destabilizing | 0.044 | N | 0.567 | neutral | None | None | None | None | N |
| Q/G | 0.5631 | ambiguous | 0.5531 | ambiguous | -1.169 | Destabilizing | 0.018 | N | 0.403 | neutral | None | None | None | None | N |
| Q/H | 0.2782 | likely_benign | 0.3013 | benign | -1.006 | Destabilizing | None | N | 0.155 | neutral | N | 0.505143547 | None | None | N |
| Q/I | 0.1842 | likely_benign | 0.2032 | benign | 0.233 | Stabilizing | None | N | 0.317 | neutral | None | None | None | None | N |
| Q/K | 0.0934 | likely_benign | 0.0919 | benign | -0.398 | Destabilizing | 0.014 | N | 0.353 | neutral | N | 0.490592508 | None | None | N |
| Q/L | 0.0811 | likely_benign | 0.089 | benign | 0.233 | Stabilizing | None | N | 0.221 | neutral | N | 0.403089638 | None | None | N |
| Q/M | 0.227 | likely_benign | 0.2557 | benign | 0.683 | Stabilizing | 0.044 | N | 0.478 | neutral | None | None | None | None | N |
| Q/N | 0.4915 | ambiguous | 0.5077 | ambiguous | -0.973 | Destabilizing | 0.022 | N | 0.432 | neutral | None | None | None | None | N |
| Q/P | 0.9107 | likely_pathogenic | 0.8615 | pathogenic | -0.073 | Destabilizing | 0.065 | N | 0.503 | neutral | N | 0.505143547 | None | None | N |
| Q/R | 0.1086 | likely_benign | 0.107 | benign | -0.412 | Destabilizing | 0.033 | N | 0.434 | neutral | N | 0.495074694 | None | None | N |
| Q/S | 0.4381 | ambiguous | 0.4465 | ambiguous | -1.094 | Destabilizing | 0.018 | N | 0.331 | neutral | None | None | None | None | N |
| Q/T | 0.2305 | likely_benign | 0.2448 | benign | -0.764 | Destabilizing | 0.018 | N | 0.33 | neutral | None | None | None | None | N |
| Q/V | 0.1296 | likely_benign | 0.1409 | benign | -0.073 | Destabilizing | None | N | 0.229 | neutral | None | None | None | None | N |
| Q/W | 0.6311 | likely_pathogenic | 0.6335 | pathogenic | -0.266 | Destabilizing | 0.788 | D | 0.505 | neutral | None | None | None | None | N |
| Q/Y | 0.4606 | ambiguous | 0.4757 | ambiguous | -0.039 | Destabilizing | 0.022 | N | 0.505 | 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.