Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4701 | 14326;14327;14328 | chr2:178738352;178738351;178738350 | chr2:179603079;179603078;179603077 |
| N2AB | 4384 | 13375;13376;13377 | chr2:178738352;178738351;178738350 | chr2:179603079;179603078;179603077 |
| N2A | 3457 | 10594;10595;10596 | chr2:178738352;178738351;178738350 | chr2:179603079;179603078;179603077 |
| N2B | 4338 | 13237;13238;13239 | chr2:178738352;178738351;178738350 | chr2:179603079;179603078;179603077 |
| Novex-1 | 4463 | 13612;13613;13614 | chr2:178738352;178738351;178738350 | chr2:179603079;179603078;179603077 |
| Novex-2 | 4530 | 13813;13814;13815 | chr2:178738352;178738351;178738350 | chr2:179603079;179603078;179603077 |
| 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/A | rs763929922  |
-1.117 | 0.76 | N | 0.462 | 0.296 | 0.519241965532 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| V/A | rs763929922 |
-1.117 | 0.76 | N | 0.462 | 0.296 | 0.519241965532 | gnomAD-4.0.0 | 1.59656E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43691E-05 | 0 |
| V/L | rs1306703274 |
-0.435 | 0.76 | N | 0.396 | 0.208 | 0.500488203797 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/L | rs1306703274 |
-0.435 | 0.76 | N | 0.396 | 0.208 | 0.500488203797 | 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 |
| V/L | rs1306703274 |
-0.435 | 0.76 | N | 0.396 | 0.208 | 0.500488203797 | gnomAD-4.0.0 | 2.57038E-06 | None | None | None | None | N | None | 1.69302E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40189E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2491 | likely_benign | 0.2904 | benign | -0.882 | Destabilizing | 0.76 | D | 0.462 | neutral | N | 0.50617965 | None | None | N |
| V/C | 0.8126 | likely_pathogenic | 0.819 | pathogenic | -0.864 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| V/D | 0.4509 | ambiguous | 0.5103 | ambiguous | -0.794 | Destabilizing | 0.986 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/E | 0.2882 | likely_benign | 0.3347 | benign | -0.842 | Destabilizing | 0.982 | D | 0.636 | neutral | N | 0.510178058 | None | None | N |
| V/F | 0.1946 | likely_benign | 0.2239 | benign | -0.74 | Destabilizing | 0.986 | D | 0.605 | neutral | None | None | None | None | N |
| V/G | 0.3426 | ambiguous | 0.3804 | ambiguous | -1.106 | Destabilizing | 0.982 | D | 0.668 | neutral | D | 0.655964308 | None | None | N |
| V/H | 0.6094 | likely_pathogenic | 0.6573 | pathogenic | -0.52 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| V/I | 0.0797 | likely_benign | 0.0867 | benign | -0.403 | Destabilizing | 0.06 | N | 0.272 | neutral | None | None | None | None | N |
| V/K | 0.3636 | ambiguous | 0.4258 | ambiguous | -0.927 | Destabilizing | 0.986 | D | 0.662 | neutral | None | None | None | None | N |
| V/L | 0.2088 | likely_benign | 0.2448 | benign | -0.403 | Destabilizing | 0.76 | D | 0.396 | neutral | N | 0.507248133 | None | None | N |
| V/M | 0.1588 | likely_benign | 0.1762 | benign | -0.522 | Destabilizing | 0.982 | D | 0.536 | neutral | D | 0.616479633 | None | None | N |
| V/N | 0.3467 | ambiguous | 0.3927 | ambiguous | -0.771 | Destabilizing | 0.986 | D | 0.748 | deleterious | None | None | None | None | N |
| V/P | 0.8597 | likely_pathogenic | 0.9092 | pathogenic | -0.527 | Destabilizing | 0.993 | D | 0.691 | prob.neutral | None | None | None | None | N |
| V/Q | 0.349 | ambiguous | 0.4047 | ambiguous | -0.954 | Destabilizing | 0.993 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/R | 0.3389 | likely_benign | 0.4038 | ambiguous | -0.363 | Destabilizing | 0.993 | D | 0.759 | deleterious | None | None | None | None | N |
| V/S | 0.2872 | likely_benign | 0.3234 | benign | -1.168 | Destabilizing | 0.647 | D | 0.341 | neutral | None | None | None | None | N |
| V/T | 0.2454 | likely_benign | 0.2767 | benign | -1.108 | Destabilizing | 0.91 | D | 0.459 | neutral | None | None | None | None | N |
| V/W | 0.8673 | likely_pathogenic | 0.8925 | pathogenic | -0.864 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/Y | 0.6014 | likely_pathogenic | 0.6339 | pathogenic | -0.586 | Destabilizing | 0.998 | D | 0.609 | 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.