Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2367 | 7324;7325;7326 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
| N2AB | 2367 | 7324;7325;7326 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
| N2A | 2367 | 7324;7325;7326 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
| N2B | 2321 | 7186;7187;7188 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
| Novex-1 | 2321 | 7186;7187;7188 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
| Novex-2 | 2321 | 7186;7187;7188 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
| Novex-3 | 2367 | 7324;7325;7326 | chr2:178774069;178774068;178774067 | chr2:179638796;179638795;179638794 |
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 | rs1234347852  |
-0.96 | 0.999 | D | 0.625 | 0.863 | 0.889776735302 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.53E-05 | None | 0 | 0 | 0 |
| V/D | rs1234347852 |
-0.96 | 0.999 | D | 0.625 | 0.863 | 0.889776735302 | gnomAD-4.0.0 | 1.3682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31868E-05 | 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 | 0.4561 | ambiguous | 0.4668 | ambiguous | -0.579 | Destabilizing | 0.978 | D | 0.412 | neutral | N | 0.514078866 | None | None | N |
| V/C | 0.8903 | likely_pathogenic | 0.9016 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.489 | neutral | None | None | None | None | N |
| V/D | 0.9474 | likely_pathogenic | 0.9583 | pathogenic | -0.601 | Destabilizing | 0.999 | D | 0.625 | neutral | D | 0.695021397 | None | None | N |
| V/E | 0.8993 | likely_pathogenic | 0.9174 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | N |
| V/F | 0.5172 | ambiguous | 0.5365 | ambiguous | -0.863 | Destabilizing | 0.994 | D | 0.479 | neutral | D | 0.655845906 | None | None | N |
| V/G | 0.4933 | ambiguous | 0.5097 | ambiguous | -0.722 | Destabilizing | 0.999 | D | 0.618 | neutral | D | 0.656844674 | None | None | N |
| V/H | 0.947 | likely_pathogenic | 0.9568 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| V/I | 0.1296 | likely_benign | 0.1328 | benign | -0.344 | Destabilizing | 0.37 | N | 0.238 | neutral | N | 0.521275586 | None | None | N |
| V/K | 0.9082 | likely_pathogenic | 0.9266 | pathogenic | -0.536 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| V/L | 0.6181 | likely_pathogenic | 0.6468 | pathogenic | -0.344 | Destabilizing | 0.121 | N | 0.253 | neutral | D | 0.586980488 | None | None | N |
| V/M | 0.5036 | ambiguous | 0.531 | ambiguous | -0.291 | Destabilizing | 0.995 | D | 0.475 | neutral | None | None | None | None | N |
| V/N | 0.8567 | likely_pathogenic | 0.8772 | pathogenic | -0.143 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| V/P | 0.979 | likely_pathogenic | 0.982 | pathogenic | -0.388 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| V/Q | 0.877 | likely_pathogenic | 0.8958 | pathogenic | -0.425 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| V/R | 0.879 | likely_pathogenic | 0.8992 | pathogenic | 0.007 | Stabilizing | 0.999 | D | 0.627 | neutral | None | None | None | None | N |
| V/S | 0.6741 | likely_pathogenic | 0.6928 | pathogenic | -0.448 | Destabilizing | 0.999 | D | 0.561 | neutral | None | None | None | None | N |
| V/T | 0.5059 | ambiguous | 0.5436 | ambiguous | -0.474 | Destabilizing | 0.992 | D | 0.461 | neutral | None | None | None | None | N |
| V/W | 0.98 | likely_pathogenic | 0.983 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| V/Y | 0.8917 | likely_pathogenic | 0.9074 | pathogenic | -0.657 | Destabilizing | 0.999 | D | 0.471 | 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.